Tay-Sachs Disease - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References

TAY-SACHS DISEASE A M EDICAL D ICTIONARY , B IBLIOGRAPHY , AND A NNOTATED R ESEARCH G UIDE TO I NTERNET R E FERENCES J ...

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TAY-SACHS DISEASE A M EDICAL D ICTIONARY , B IBLIOGRAPHY , AND A NNOTATED R ESEARCH G UIDE TO I NTERNET R E FERENCES

J AMES N. P ARKER , M.D. AND P HILIP M. P ARKER , P H .D., E DITORS

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ICON Health Publications ICON Group International, Inc. 4370 La Jolla Village Drive, 4th Floor San Diego, CA 92122 USA Copyright 2004 by ICON Group International, Inc. Copyright 2004 by ICON Group International, Inc. All rights reserved. This book is protected by copyright. No part of it may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, electronic, mechanical, photocopying, recording, or otherwise, without written permission from the publisher. Printed in the United States of America. Last digit indicates print number: 10 9 8 7 6 4 5 3 2 1

Publisher, Health Care: Philip Parker, Ph.D. Editor(s): James Parker, M.D., Philip Parker, Ph.D. Publisher's note: The ideas, procedures, and suggestions contained in this book are not intended for the diagnosis or treatment of a health problem. As new medical or scientific information becomes available from academic and clinical research, recommended treatments and drug therapies may undergo changes. The authors, editors, and publisher have attempted to make the information in this book up to date and accurate in accord with accepted standards at the time of publication. The authors, editors, and publisher are not responsible for errors or omissions or for consequences from application of the book, and make no warranty, expressed or implied, in regard to the contents of this book. Any practice described in this book should be applied by the reader in accordance with professional standards of care used in regard to the unique circumstances that may apply in each situation. The reader is advised to always check product information (package inserts) for changes and new information regarding dosage and contraindications before prescribing any drug or pharmacological product. Caution is especially urged when using new or infrequently ordered drugs, herbal remedies, vitamins and supplements, alternative therapies, complementary therapies and medicines, and integrative medical treatments. Cataloging-in-Publication Data Parker, James N., 1961Parker, Philip M., 1960Tay-Sachs Disease: A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References / James N. Parker and Philip M. Parker, editors p. cm. Includes bibliographical references, glossary, and index. ISBN: 0-597-84648-0 1. Tay-Sachs Disease-Popular works. I. Title.

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Disclaimer This publication is not intended to be used for the diagnosis or treatment of a health problem. It is sold with the understanding that the publisher, editors, and authors are not engaging in the rendering of medical, psychological, financial, legal, or other professional services. References to any entity, product, service, or source of information that may be contained in this publication should not be considered an endorsement, either direct or implied, by the publisher, editors, or authors. ICON Group International, Inc., the editors, and the authors are not responsible for the content of any Web pages or publications referenced in this publication.

Copyright Notice If a physician wishes to copy limited passages from this book for patient use, this right is automatically granted without written permission from ICON Group International, Inc. (ICON Group). However, all of ICON Group publications have copyrights. With exception to the above, copying our publications in whole or in part, for whatever reason, is a violation of copyright laws and can lead to penalties and fines. Should you want to copy tables, graphs, or other materials, please contact us to request permission (E-mail: [email protected]). ICON Group often grants permission for very limited reproduction of our publications for internal use, press releases, and academic research. Such reproduction requires confirmed permission from ICON Group International, Inc. The disclaimer above must accompany all reproductions, in whole or in part, of this book.

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Acknowledgements The collective knowledge generated from academic and applied research summarized in various references has been critical in the creation of this book which is best viewed as a comprehensive compilation and collection of information prepared by various official agencies which produce publications on Tay-Sachs disease. Books in this series draw from various agencies and institutions associated with the United States Department of Health and Human Services, and in particular, the Office of the Secretary of Health and Human Services (OS), the Administration for Children and Families (ACF), the Administration on Aging (AOA), the Agency for Healthcare Research and Quality (AHRQ), the Agency for Toxic Substances and Disease Registry (ATSDR), the Centers for Disease Control and Prevention (CDC), the Food and Drug Administration (FDA), the Healthcare Financing Administration (HCFA), the Health Resources and Services Administration (HRSA), the Indian Health Service (IHS), the institutions of the National Institutes of Health (NIH), the Program Support Center (PSC), and the Substance Abuse and Mental Health Services Administration (SAMHSA). In addition to these sources, information gathered from the National Library of Medicine, the United States Patent Office, the European Union, and their related organizations has been invaluable in the creation of this book. Some of the work represented was financially supported by the Research and Development Committee at INSEAD. This support is gratefully acknowledged. Finally, special thanks are owed to Tiffany Freeman for her excellent editorial support.

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About the Editors James N. Parker, M.D. Dr. James N. Parker received his Bachelor of Science degree in Psychobiology from the University of California, Riverside and his M.D. from the University of California, San Diego. In addition to authoring numerous research publications, he has lectured at various academic institutions. Dr. Parker is the medical editor for health books by ICON Health Publications. Philip M. Parker, Ph.D. Philip M. Parker is the Eli Lilly Chair Professor of Innovation, Business and Society at INSEAD (Fontainebleau, France and Singapore). Dr. Parker has also been Professor at the University of California, San Diego and has taught courses at Harvard University, the Hong Kong University of Science and Technology, the Massachusetts Institute of Technology, Stanford University, and UCLA. Dr. Parker is the associate editor for ICON Health Publications.

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About ICON Health Publications To discover more about ICON Health Publications, simply check with your preferred online booksellers, including Barnes&Noble.com and Amazon.com which currently carry all of our titles. Or, feel free to contact us directly for bulk purchases or institutional discounts: ICON Group International, Inc. 4370 La Jolla Village Drive, Fourth Floor San Diego, CA 92122 USA Fax: 858-546-4341 Web site: www.icongrouponline.com/health

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Table of Contents FORWARD .......................................................................................................................................... 1 CHAPTER 1. STUDIES ON TAY-SACHS DISEASE ................................................................................ 3 Overview........................................................................................................................................ 3 Federally Funded Research on Tay-Sachs Disease......................................................................... 3 E-Journals: PubMed Central ......................................................................................................... 4 The National Library of Medicine: PubMed .................................................................................. 5 CHAPTER 2. NUTRITION AND TAY-SACHS DISEASE....................................................................... 49 Overview...................................................................................................................................... 49 Finding Nutrition Studies on Tay-Sachs Disease ....................................................................... 49 Federal Resources on Nutrition ................................................................................................... 50 Additional Web Resources ........................................................................................................... 51 CHAPTER 3. ALTERNATIVE MEDICINE AND TAY-SACHS DISEASE ................................................ 53 Overview...................................................................................................................................... 53 National Center for Complementary and Alternative Medicine.................................................. 53 Additional Web Resources ........................................................................................................... 55 General References ....................................................................................................................... 56 CHAPTER 4. DISSERTATIONS ON TAY-SACHS DISEASE .................................................................. 57 Overview...................................................................................................................................... 57 Dissertations on Tay-Sachs Disease ............................................................................................ 57 Keeping Current .......................................................................................................................... 57 CHAPTER 5. BOOKS ON TAY-SACHS DISEASE ................................................................................. 59 Overview...................................................................................................................................... 59 Book Summaries: Federal Agencies.............................................................................................. 59 Book Summaries: Online Booksellers........................................................................................... 60 Chapters on Tay-Sachs Disease ................................................................................................... 60 CHAPTER 6. PERIODICALS AND NEWS ON TAY-SACHS DISEASE ................................................... 63 Overview...................................................................................................................................... 63 News Services and Press Releases................................................................................................ 63 Academic Periodicals covering Tay-Sachs Disease ...................................................................... 65 APPENDIX A. PHYSICIAN RESOURCES ............................................................................................ 69 Overview...................................................................................................................................... 69 NIH Guidelines............................................................................................................................ 69 NIH Databases............................................................................................................................. 71 Other Commercial Databases....................................................................................................... 73 The Genome Project and Tay-Sachs Disease................................................................................ 73 APPENDIX B. PATIENT RESOURCES ................................................................................................. 77 Overview...................................................................................................................................... 77 Patient Guideline Sources............................................................................................................ 77 Finding Associations.................................................................................................................... 80 APPENDIX C. FINDING MEDICAL LIBRARIES .................................................................................. 83 Overview...................................................................................................................................... 83 Preparation................................................................................................................................... 83 Finding a Local Medical Library.................................................................................................. 83 Medical Libraries in the U.S. and Canada ................................................................................... 83 ONLINE GLOSSARIES.................................................................................................................. 89 Online Dictionary Directories ..................................................................................................... 91 TAY-SACHS DISEASE DICTIONARY....................................................................................... 93 INDEX .............................................................................................................................................. 119

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FORWARD In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading."1 Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing. Since only the smallest fraction of information dealing with Tay-Sachs disease is indexed in search engines, such as www.google.com or others, a non-systematic approach to Internet research can be not only time consuming, but also incomplete. This book was created for medical professionals, students, and members of the general public who want to know as much as possible about Tay-Sachs disease, using the most advanced research tools available and spending the least amount of time doing so. In addition to offering a structured and comprehensive bibliography, the pages that follow will tell you where and how to find reliable information covering virtually all topics related to Tay-Sachs disease, from the essentials to the most advanced areas of research. Public, academic, government, and peer-reviewed research studies are emphasized. Various abstracts are reproduced to give you some of the latest official information available to date on Tay-Sachs disease. Abundant guidance is given on how to obtain free-of-charge primary research results via the Internet. While this book focuses on the field of medicine, when some sources provide access to non-medical information relating to Tay-Sachs disease, these are noted in the text. E-book and electronic versions of this book are fully interactive with each of the Internet sites mentioned (clicking on a hyperlink automatically opens your browser to the site indicated). If you are using the hard copy version of this book, you can access a cited Web site by typing the provided Web address directly into your Internet browser. You may find it useful to refer to synonyms or related terms when accessing these Internet databases. NOTE: At the time of publication, the Web addresses were functional. However, some links may fail due to URL address changes, which is a common occurrence on the Internet. For readers unfamiliar with the Internet, detailed instructions are offered on how to access electronic resources. For readers unfamiliar with medical terminology, a comprehensive glossary is provided. For readers without access to Internet resources, a directory of medical libraries, that have or can locate references cited here, is given. We hope these resources will prove useful to the widest possible audience seeking information on Tay-Sachs disease. The Editors

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From the NIH, National Cancer Institute (NCI): http://www.cancer.gov/cancerinfo/ten-things-to-know.

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CHAPTER 1. STUDIES ON TAY-SACHS DISEASE Overview In this chapter, we will show you how to locate peer-reviewed references and studies on Tay-Sachs disease.

Federally Funded Research on Tay-Sachs Disease The U.S. Government supports a variety of research studies relating to Tay-Sachs disease. These studies are tracked by the Office of Extramural Research at the National Institutes of Health.2 CRISP (Computerized Retrieval of Information on Scientific Projects) is a searchable database of federally funded biomedical research projects conducted at universities, hospitals, and other institutions. Search the CRISP Web site at http://crisp.cit.nih.gov/crisp/crisp_query.generate_screen. You will have the option to perform targeted searches by various criteria, including geography, date, and topics related to Tay-Sachs disease. For most of the studies, the agencies reporting into CRISP provide summaries or abstracts. As opposed to clinical trial research using patients, many federally funded studies use animals or simulated models to explore Tay-Sachs disease. The following is typical of the type of information found when searching the CRISP database for Tay-Sachs disease: •

Project Title: GLYCOSIDASES AS RELATED TO SPHINGOLIPIDOSES Principal Investigator & Institution: Li, Yu-Teh; Professor of Biochemistry; Biochemistry; Tulane University of Louisiana New Orleans, La New Orleans, La 70112 Timing: Fiscal Year 2002; Project Start 01-FEB-1979; Project End 31-JAN-2003 Summary: Glycoconjugates (glycoproteins and glycosphingolipids) have been shown to carry biological messages and play important biological functions. Glycosidases are

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Healthcare projects are funded by the National Institutes of Health (NIH), Substance Abuse and Mental Health Services (SAMHSA), Health Resources and Services Administration (HRSA), Food and Drug Administration (FDA), Centers for Disease Control and Prevention (CDCP), Agency for Healthcare Research and Quality (AHRQ), and Office of Assistant Secretary of Health (OASH).

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responsible for the catabolism of glycoconjugates and abnormal catabolism of glycoconjugates can lead to inborn lysosomal diseases such as sphingolipidoses. Specific Aim I of this proposal focuses on the studies of chemical pathology to Tay-Sachs disease caused by the abnormal catabolism of GM2, a glycosphingolipid. Before the 1970s, it was believed that only glycosidases are responsible for the degradation of glycosphingolipids. During the past two decades, this laboratory and others have established that the catabolism of glycosphingolipids requires not only the enzyme but also the activator proteins. They plan to continue ongoing studies on: I) the mechanism of action of human GM2 activator, ii) the differences between the catabolism of GM2 in mouse and man, and iii) other biological functions of GM2 activator. Biochemical and molecular biological approaches will be used to investigate why beta-hexosaminidase A alone can not hydrolyze GM2 and how the activator protein promotes the hydrolysis of GM2. This study will provide new understanding on the chemical pathology of TaySachs disease. Glycosidases are indispensable for studying the structure and function of glycoconjugates. Specific Aim 2 of this application centers on the studies of the following novel glycosidases that are recently discovered in the P.I.'s laboratory: I) sialidase L which exhibits strict NeuAcalpha2,3Gal-linkage specificity and releases 2,7anhydro-NeuAc as the product; ii) KDN-sialidase capable of releasing both KDN and NeuAc from sialoglycoconjugates; iii) NeuGc-Gc-sialidase which cleaves the novel sialosyl linkage of a NeuGc linked through the glycolyl hydroxyl group of another NeuGc; iv) alpha-KDOase capable of releasing KDO from endotoxins, and v) betagalactosidase S which hydrolyzes both beta-linked galactose and beta-linked galactose6-sulfate. These novel glycosidases can serve as the keys to open new frontiers of biomedical research in glycobiology. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

E-Journals: PubMed Central3 PubMed Central (PMC) is a digital archive of life sciences journal literature developed and managed by the National Center for Biotechnology Information (NCBI) at the U.S. National Library of Medicine (NLM).4 Access to this growing archive of e-journals is free and unrestricted.5 To search, go to http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Pmc, and type “Tay-Sachs disease” (or synonyms) into the search box. This search gives you access to full-text articles. The following is a sample of items found for Tay-Sachs disease in the PubMed Central database: •

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Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group. by Myerowitz R.; 1988 Jun; http://www.pubmedcentral.gov/picrender.fcgi?tool=pmcentrez&action=stream&blobt ype=pdf&artid=280339

Adapted from the National Library of Medicine: http://www.pubmedcentral.nih.gov/about/intro.html.

With PubMed Central, NCBI is taking the lead in preservation and maintenance of open access to electronic literature, just as NLM has done for decades with printed biomedical literature. PubMed Central aims to become a world-class library of the digital age. 5 The value of PubMed Central, in addition to its role as an archive, lies in the availability of data from diverse sources stored in a common format in a single repository. Many journals already have online publishing operations, and there is a growing tendency to publish material online only, to the exclusion of print.

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Synthesis of beta-hexosaminidase in cell-free translation and in intact fibroblasts: an insoluble precursor alpha chain in a rare form of Tay-Sachs disease. by Proia RL, Neufeld EF.; 1982 Oct; http://www.pubmedcentral.gov/picrender.fcgi?tool=pmcentrez&action=stream&blobt ype=pdf&artid=347121

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Targeted Disruption of the Hexa Gene Results in Mice with Biochemical and Pathologic Features of Tay-Sachs Disease. by Yamanaka S, Johnson MD, Grinberg A, Westphal H, Crawley JN, Tanike M, Suzuki K, Proia RL.; 1994 Oct 11; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&rendertype=abstr act&artid=44940

The National Library of Medicine: PubMed One of the quickest and most comprehensive ways to find academic studies in both English and other languages is to use PubMed, maintained by the National Library of Medicine.6 The advantage of PubMed over previously mentioned sources is that it covers a greater number of domestic and foreign references. It is also free to use. If the publisher has a Web site that offers full text of its journals, PubMed will provide links to that site, as well as to sites offering other related data. User registration, a subscription fee, or some other type of fee may be required to access the full text of articles in some journals. To generate your own bibliography of studies dealing with Tay-Sachs disease, simply go to the PubMed Web site at http://www.ncbi.nlm.nih.gov/pubmed. Type “Tay-Sachs disease” (or synonyms) into the search box, and click “Go.” The following is the type of output you can expect from PubMed for Tay-Sachs disease (hyperlinks lead to article summaries): •

A “G” to “A” mutation at position -1 of a 5' splice site in a late infantile form of TaySachs disease. Author(s): Akli S, Chelly J, Mezard C, Gandy S, Kahn A, Poenaru L. Source: The Journal of Biological Chemistry. 1990 May 5; 265(13): 7324-30. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2139660

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A deletion involving Alu sequences in the beta-hexosaminidase alpha-chain gene of French Canadians with Tay-Sachs disease. Author(s): Myerowitz R, Hogikyan ND. Source: The Journal of Biological Chemistry. 1987 November 15; 262(32): 15396-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2824459

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PubMed was developed by the National Center for Biotechnology Information (NCBI) at the National Library of Medicine (NLM) at the National Institutes of Health (NIH). The PubMed database was developed in conjunction with publishers of biomedical literature as a search tool for accessing literature citations and linking to full-text journal articles at Web sites of participating publishers. Publishers that participate in PubMed supply NLM with their citations electronically prior to or at the time of publication.

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A double mutation in exon 6 of the beta-hexosaminidase alpha subunit in a patient with the B1 variant of Tay-Sachs disease. Author(s): Ainsworth PJ, Coulter-Mackie MB. Source: American Journal of Human Genetics. 1992 October; 51(4): 802-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1415222

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A frameshift mutation in a patient with Tay-Sachs disease causes premature termination and defective intracellular transport of the alpha-subunit of betahexosaminidase. Author(s): Lau MM, Neufeld EF. Source: The Journal of Biological Chemistry. 1989 December 15; 264(35): 21376-80. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2531748

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A fully automated method for identification of Tay-Sachs disease carriers by tear beta-hexosaminidase assay. Author(s): Desnick RJ, Truex JH, Goldberg JD. Source: Prog Clin Biol Res. 1977; 18: 245-65. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=23556

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A G to C transversion in codon 258 of the alpha-subunit of beta-hexosaminidase A in an infant Tay-Sachs disease patient. Author(s): Brewer KK. Source: Human Mutation. 1993; 2(6): 496-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8111418

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A gel electrophoretic assay for detecting the insertion defect in Ashkenazi Jewish carriers of Tay-Sachs disease. Author(s): Shore S, Myerowitz R. Source: Analytical Biochemistry. 1990 April; 186(1): 179-81. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2356966

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A genetic screening programme for Tay-Sachs disease and cystic fibrosis for Australian Jewish high school students. Author(s): Barlow-Stewart K, Burnett L, Proos A, Howell V, Huq F, Lazarus R, Aizenberg H. Source: Journal of Medical Genetics. 2003 April; 40(4): E45. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12676918

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A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family. Author(s): Trop I, Kaplan F, Brown C, Mahuran D, Hechtman P. Source: Human Mutation. 1992; 1(1): 35-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1301189

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A method for analysing fertility of heterozygotes for autosomal recessive disorders, with special reference to cystic fibrosis, Tay-Sachs disease and phenylketonuria. Author(s): Ten Kate LP. Source: Annals of Human Genetics. 1977 January; 40(3): 287-97. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=848858

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A modified method for prenatal diagnosis of Tay-Sachs disease in cell-free amniotic fluid. Author(s): Navon R, Wiselter J, Modan M. Source: Monogr Hum Genet. 1978; 9: 186-92. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=732839

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A molecular variant of Tay-Sachs disease in a non-Ashkenazi Jewish family. Author(s): Bach G, Cohen MM. Source: Prog Clin Biol Res. 1977; 18: 189-94. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=601076

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A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies. Author(s): Akerman BR, Zielenski J, Triggs-Raine BL, Prence EM, Natowicz MR, LimSteele JS, Kaback MM, Mules EH, Thomas GH, Clarke JT, et al. Source: Human Mutation. 1992; 1(4): 303-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1301938

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A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant). Author(s): Tanaka A, Punnett HH, Suzuki K. Source: American Journal of Human Genetics. 1990 September; 47(3): 568-74. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2144098

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A new point mutation within exon 5 of beta-hexosaminidase alpha gene in a Japanese infant with Tay-Sachs disease. Author(s): Nakano T, Nanba E, Tanaka A, Ohno K, Suzuki Y, Suzuki K. Source: Annals of Neurology. 1990 May; 27(5): 465-73. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2141777

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A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation. Author(s): Fernandes M, Kaplan F, Natowicz M, Prence E, Kolodny E, Kaback M, Hechtman P. Source: Human Molecular Genetics. 1992 December; 1(9): 759-61. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1302612

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A novel mutation in the HEXA gene specific to Tay-Sachs disease carriers of Jewish Iraqi origin. Author(s): Karpati M, Peleg L, Gazit E, Akstein E, Goldman B. Source: Clinical Genetics. 2000 May; 57(5): 398-400. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10852376

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A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2gangliosidosis (Tay-Sachs disease) patients. Author(s): Mules EH, Dowling CE, Petersen MB, Kazazian HH Jr, Thomas GH. Source: American Journal of Human Genetics. 1991 June; 48(6): 1181-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1827945

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A nursing challenge: adult-onset Tay-Sachs disease. Author(s): Hamilton D. Source: Archives of Psychiatric Nursing. 1991 December; 5(6): 382-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1759864

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A religious response to Tay-Sachs disease screening and prevention. Author(s): Jacobs SB. Source: Prog Clin Biol Res. 1977; 18: 75-80. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=601096

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A screening program for Tay-Sachs disease in Israel. Author(s): Padeh B. Source: Isr J Med Sci. 1973 September-October; 9(9): 1330-4. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4775113

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A shortened beta-hexosaminidase alpha-chain in an Italian patient with infantile Tay-Sachs disease. Author(s): Zokaeem G, Bayleran J, Kaplan P, Hechtman P, Neufeld EF. Source: American Journal of Human Genetics. 1987 June; 40(6): 537-47. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2954459

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A splicing defect due to an exon-intron junctional mutation results in abnormal betahexosaminidase alpha chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs disease. Author(s): Ohno K, Suzuki K. Source: Biochemical and Biophysical Research Communications. 1988 May 31; 153(1): 463-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2837213

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Abnormal gangliosides in Tay-Sachs disease, Niemann-Pick's disease, and gargoylism. Author(s): Booth DA, Goodwin H, Cumings JN. Source: Journal of Lipid Research. 1966 May; 7(3): 337-40. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4959256

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Abnormality of cerebral neutral lipids and glycolipids in a case of Tay-Sachs disease which appeared in siblings. Author(s): Taketomi T, Kawamura N, Okano A. Source: Jpn J Exp Med. 1971 April; 41(2): 103-11. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5313762

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Active arginine residues in beta-hexosaminidase. Identification through studies of the B1 variant of Tay-Sachs disease. Author(s): Brown CA, Mahuran DJ. Source: The Journal of Biological Chemistry. 1991 August 25; 266(24): 15855-62. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1831451

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Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-deficient knock-out mice. Author(s): Guidotti JE, Mignon A, Haase G, Caillaud C, McDonell N, Kahn A, Poenaru L. Source: Human Molecular Genetics. 1999 May; 8(5): 831-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10196372

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Adult GM2 gangliosidosis in association with Tay-Sachs disease: a new phenotype. Author(s): Navon R, Argov Z, Brand N, Sandbank U. Source: Neurology. 1981 November; 31(11): 1397-1401. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6458776

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Altered alpha subunits in Tay-Sachs disease. Author(s): Srivastava SK, Ansari NH. Source: Nature. 1978 May 18; 273(5659): 245-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=643087

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An A-to-G mutation at the +3 position of intron 8 of the HEXA gene is associated with exon 8 skipping and Tay-Sachs disease. Author(s): Richard MM, Erenberg G, Triggs-Raine BL. Source: Biochemical and Molecular Medicine. 1995 June; 55(1): 74-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7551830

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An autopsy case of Tay-Sachs disease--with special reference to axonal swellings of the central nervous system and freeze-fracture replication studies of the membranous cytoplasmic bodies. Author(s): Shirabe T, Hirokawa M, Asaki H. Source: Folia Psychiatr Neurol Jpn. 1980; 34(4): 515-23. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7262729

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An economic evaluation of a genetic screening program for Tay-Sachs disease. Author(s): Nelson WB, Swint JM, Caskey CT. Source: American Journal of Human Genetics. 1978 March; 30(2): 160-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=418675

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An extra chromosome in a case of Tay-Sachs disease with additional abnormalities. Author(s): Giorgi PL, Paci A, Ceccarelli M. Source: Helv Paediatr Acta. 1967 April; 22(1): 28-35. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5585046

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An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs disease. Author(s): Shore S, Tomczak J, Grebner EE, Myerowitz R. Source: Human Mutation. 1992; 1(6): 486-90. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1301958

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Apparent deficiency of hexosaminidase A in healthy members of a family with TaySachs disease. Author(s): Navon R, Padeh B, Adam A. Source: American Journal of Human Genetics. 1973 May; 25(3): 287-93. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4704860

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Approaches to the control and prevention of Tay-Sachs disease. Author(s): Kaback MM, Zeiger RS, Reynolds LW, Sonneborn M. Source: Prog Med Genet. 1974; 10: 103-34. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4620174

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Asialo GM-ganglioside in brain fetal Tay-Sachs disease. Author(s): Schneck L, Pinkett B, Volk BW. Source: Journal of Neurochemistry. 1975 January; 24(1): 183-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1110360

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At least six different mutations in HEXA gene cause Tay-Sachs disease among the Turkish population. Author(s): Ozkara HA, Navon R. Source: Molecular Genetics and Metabolism. 1998 November; 65(3): 250-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9851891

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Auditory responses in Tay-Sachs disease. Author(s): Tanaka Y, Taguchi K, Arayama T. Source: Pract Otorhinolaryngol (Basel). 1969; 31(1): 46-53. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5795626

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Automated determination of serum hexosaminidase A by pH inactivation for detection of Tay-Sachs disease heterozygotes. Author(s): Saifer A, Perle G. Source: Clinical Chemistry. 1974 May; 20(5): 538-43. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4826945

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Automated differentiation and measurement of hexosaminidase isoenzymes in biological fluids and its application to pre- and postnatal detection of Tay-Sachs disease. Author(s): Saifer A, Parkhurst GW, Amoroso J. Source: Clinical Chemistry. 1975 March; 21(3): 334-42. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1112042

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Automated thermal fractionation of serum hexosaminidase: effects of alteration in reaction variables and implications for Tay-Sachs disease heterozygote screening. Author(s): Kaback MM, Bailin G, Hirsch P, Roy C. Source: Prog Clin Biol Res. 1977; 18: 197-212. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=23554

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Bacterial chitobiase structure provides insight into catalytic mechanism and the basis of Tay-Sachs disease. Author(s): Tews I, Perrakis A, Oppenheim A, Dauter Z, Wilson KS, Vorgias CE. Source: Nature Structural Biology. 1996 July; 3(7): 638-48. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8673609

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Barney Sachs and the history of the neuropathologic description of Tay-Sachs disease. Author(s): Perl DP. Source: Adv Genet. 2001; 44: 11-23. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11596977

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beta-Hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay-Sachs disease. Author(s): Brown CA, Mahuran DJ. Source: American Journal of Human Genetics. 1993 August; 53(2): 497-508. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8328462

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Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles. Author(s): Landels EC, Green PM, Ellis IH, Fensom AH, Bobrow M. Source: Journal of Medical Genetics. 1992 August; 29(8): 563-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1387685

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Beta-hexosaminidase: biosynthesis and processing of the normal enzyme, and identification of mutations causing Jewish Tay-Sachs disease. Author(s): Mahuran DJ. Source: Clinical Biochemistry. 1995 April; 28(2): 101-6. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7628066

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Biallelic discrimination assays for the three common Ashkenazi Jewish mutations and a common non-Jewish mutation, in Tay-Sachs disease, using fluorogenic TaqMan probes. Author(s): Ward CP, Fensom AH, Green PM. Source: Genetic Testing. 2000; 4(4): 351-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11216658

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Biochemistry and genetics of Tay-Sachs disease. Author(s): Gravel RA, Triggs-Raine BL, Mahuran DJ. Source: The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 1991 August; 18(3 Suppl): 419-23. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1834320

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Bovine serum albumin as a cause of misdiagnosis in Tay-Sachs disease. Author(s): Taylor HA, Parks SE. Source: Clinical Chemistry. 1977 May; 23(5): 912. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=852118

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Brain ceramide hexosides in Tay-Sachs disease and generalized gangliosidosis (GM1gangliosidosis). Author(s): Suzuki K, Chen GC. Source: Journal of Lipid Research. 1967 March; 8(2): 105-13. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14564716

Studies

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Carrier detection and prenatal diagnosis of Tay-Sachs disease. Author(s): Ellis RB. Source: Proc R Soc Med. 1974 December; 67(12 Pt 1): 1257. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4449870

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Carrier screening for cystic fibrosis, Gaucher disease, and Tay-Sachs disease in the Ashkenazi Jewish population: the first 1000 cases at New York University Medical Center, New York, NY. Author(s): Kronn D, Jansen V, Ostrer H. Source: Archives of Internal Medicine. 1998 April 13; 158(7): 777-81. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9554684

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Carrier screening for Tay-Sachs disease and cystic fibrosis. Author(s): ten Kate LP, Tijmstra T. Source: Lancet. 1990 June 23; 335(8704): 1527-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1972454

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Carrier screening for Tay-Sachs disease. Author(s): Scriver CR, Clow CL. Source: Lancet. 1990 July 21; 336(8708): 191. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1973519

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Carrier screening for Tay-Sachs disease. Author(s): Scriver CR, Clow CL. Source: Lancet. 1990 April 7; 335(8693): 856. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1969578

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Caveats of antenatal diagnosis of Tay-Sachs disease. Author(s): Saifer A, Schneck L, Perle G, Valenti C, Volk BW. Source: American Journal of Obstetrics and Gynecology. 1973 February 15; 115(4): 554-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4685506

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Cerebral and visceral glycolipids in a case of Tay-Sachs disease. Author(s): Taketomi T, Kawamura N. Source: Journal of Biochemistry. 1969 August; 66(2): 165-74. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4314931

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Ceroid-lipofuscinosis (Batten disease). Fluorescein angiography, electrophysiology, histopathology, ultrastructure, and a review of amaurotic familial idiocy. Author(s): Hittner HM, Ziller RS. Source: Archives of Ophthalmology. 1975 March; 93(3): 178-83. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1138683

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Characterization of beta-D-N-acetylhexosaminidases C and S in fibroplasts from control individuals and patients with Tay-Sachs disease. Author(s): Reuser AJ, Galjaard H. Source: Febs Letters. 1976 November 15; 72(1): 1-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11130

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Characterization of two Turkish beta-hexosaminidase mutations causing Tay-Sachs disease. Author(s): Ozkara HA, Sandhoff K. Source: Brain & Development. 2003 April; 25(3): 191-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12689698

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Clinical manifestations of psychiatric patients who are carriers of Tay-Sachs disease. Possible role of psychotropic drugs. Author(s): Zelnik N, Khazanov V, Sheinkman A, Karpati AM, Peleg L. Source: Neuropsychobiology. 2000; 41(3): 127-31. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10754426

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Collaborative study of the molecular epidemiology of Tay-Sachs disease in Europe. Author(s): Akli S, Boue J, Sandhoff K, Kleijer W, Vamos E, Young E, Gatti R, Di Natale P, Motte J, Vanier MT, et al. Source: European Journal of Human Genetics : Ejhg. 1993; 1(3): 229-38. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8044648

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Community screening for Tay-Sachs disease. Author(s): Jackson LG, Nimoityn P, Faust HS, Glazerman LR. Source: American Family Physician. 1976 April; 13(4): 111-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1266700

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Community-based genetic education, communication channels, and knowledge of Tay-Sachs disease. Author(s): Massarik F, Kaback MM, Greenwald S, Nathan TJ, Rosenthal M, Bass DM. Source: Prog Clin Biol Res. 1977; 18: 353-66. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=601086

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Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program. Author(s): Yoo HW, Astrin KH, Desnick RJ. Source: Journal of Korean Medical Science. 1993 February; 8(1): 84-91. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8343225

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Comparison of properties of the enzymes involved in metachromatic leukodystrophy and in Tay-Sachs disease. Author(s): Jatzkewitz H. Source: Biochem Soc Symp. 1972; (35): 141-50. Review. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4614800

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Controversy in human genetics: founder effect in Tay-Sachs disease. Author(s): Chase GA, McKusick VA. Source: American Journal of Human Genetics. 1972 May; 24(3): 339-40. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5028971

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Corneal changes in Tay-Sachs disease. Author(s): Ghosh M, Hunter WS, Wedge C. Source: Can J Ophthalmol. 1990 June; 25(4): 190-2. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2191759

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Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease. Author(s): Mark BL, Mahuran DJ, Cherney MM, Zhao D, Knapp S, James MN. Source: Journal of Molecular Biology. 2003 April 11; 327(5): 1093-109. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12662933

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Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs. Author(s): Sandhoff K, Andreae U, Jatzkewitz H. Source: Pathol Eur. 1968; 3(2): 278-85. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5688464

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Deficient hexozaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs. Author(s): Sandhoff K, Andreae U, Jatzkewitz H. Source: Life Sciences. 1968 March 15; 7(6): 283-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5651108

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Demonstration of an alteration of ganglioside metabolism in Tay-Sachs disease. Author(s): Kolodny EH, Brady RO, Volk BW. Source: Biochemical and Biophysical Research Communications. 1969 October 22; 37(3): 526-31. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5388728

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Demonstration of cross-reacting material in Tay-Sachs disease. Author(s): Srivastava SK, Ansari NH, Hawkins LA, Wiktorowicz JE. Source: The Biochemical Journal. 1979 June 1; 179(3): 657-64. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=89845

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Detection of Tay-Sachs disease carriers among individuals with thermolabile hexosaminidase B. Author(s): Peleg L, Goldman B. Source: Eur J Clin Chem Clin Biochem. 1994 February; 32(2): 65-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8003579

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Detection of Tay-Sachs disease heterozygotes by assay of hexosaminidase A in serum and leukocytes. Author(s): Suzuki Y, Berman PH, Suzuki K. Source: The Journal of Pediatrics. 1971 April; 78(4): 643-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5547820

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Diagnosis and carrier detection of Tay-Sachs disease: direct determination of hexosaminidase A using 4-methylumbelliferyl derivatives of beta-Nacetylglucosamine-6-sulfate and beta-N-acetylgalactosamine-6-sulfate. Author(s): Ben-Yoseph Y, Reid JE, Shapiro B, Nadler HL. Source: American Journal of Human Genetics. 1985 July; 37(4): 733-40. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9556661

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Diagnosis of Tay-Sachs disease by estimation of beta-N-acetylhexosaminidase activity using a radiolabeled hyaluronic acid-derived trisaccharide substrate. Author(s): Yutaka T, Kato T, Midorikawa M, Doke M, Okada S, Yabuuchi H. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1984 February 28; 137(2): 159-68. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6231138

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Diagnosis of Tay-Sachs disease by hexosaminidase activity in leukocytes and amniotic fluid cells. Author(s): Padeh B, Navon R. Source: Isr J Med Sci. 1971 February; 7(2): 259-63. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5560980

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Diagnosis of Tay-Sachs disease on blood obtained at fetoscopy. Author(s): Perry TB, Hechtman P, Chow JC. Source: Lancet. 1979 May 5; 1(8123): 972-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=87633

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Diagnosis of Tay-Sachs disease using radiolabelled chondroitin 6-sulphate-derived trisaccharides. Author(s): Yutaka T, Kato T, Okada S, Midorikawa M, Yabuuchi H. Source: Journal of Inherited Metabolic Disease. 1983; 6(3): 135-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6422149

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Diagnostic heteroduplexes: simple detection of carriers of a 4-bp insertion mutation in Tay-Sachs disease. Author(s): Triggs-Raine BL, Gravel RA. Source: American Journal of Human Genetics. 1990 January; 46(1): 183-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2294750

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Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease. Author(s): Myerowitz R, Hogikyan ND. Source: Science. 1986 June 27; 232(4758): 1646-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3754980

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Differential activities of glycolipid glycosyltransferases in Tay-Sachs disease: studies in cultured cells from cerebrum. Author(s): Basu M, Presper KA, Basu S, Hoffman LM, Brooks SE. Source: Proceedings of the National Academy of Sciences of the United States of America. 1979 September; 76(9): 4270-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=291963

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Discovery of beta-hexosaminidase A deficiency in Tay-Sachs disease. Author(s): Okada S, O'Brien JS. Source: Adv Genet. 2001; 44: 61-6. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11596999

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Donor splice site mutation in intron 5 of the HEXA gene in a Turkish infant with TaySachs disease. Author(s): Ozkara HA, Akerman BR, Ciliv G, Topcu M, Renda Y, Gravel RA. Source: Human Mutation. 1995; 5(2): 186-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7749419

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Early epidemiologic studies of Tay-Sachs disease. Author(s): Aronsont SM. Source: Adv Genet. 2001; 44: 25-31. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11596987

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Early evolution of cytoplasmic inclusion bodies in Tay-Sachs disease. Author(s): Volk BW, Adachi M, Friedland J, Schneck L, Valenti C. Source: Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N. Y.). 1970 December; 135(3): 836-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5530525

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Economic considerations in genetic screening programs for Tay-Sachs disease. Author(s): Tsukahara T Jr, Kadota RL. Source: Prog Clin Biol Res. 1977; 18: 319-27. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=601083

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Economics of screening programs for Tay-Sachs disease. Author(s): Shabat S. Source: Health Policy (Amsterdam, Netherlands). 1999 May; 47(2): 183-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10538291

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Effect of Triton X-100 on electrophoretic mobility of red blood cell ghosts from normal individuals and patients with Tay-Sachs disease. Author(s): Pourfar M, Levy S. Source: Clinical Chemistry. 1971 April; 17(4): 332-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4101583

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Electrocardiographic and biochemical abnormalities in Tay-Sachs disease. Author(s): Rodriguez-Torres R, Schneck L, Kleinberg W. Source: Bull N Y Acad Med. 1971 July; 47(7): 717-30. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5283127

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Electrophoresis with direct fluorometry for the diagnosis of Tay-Sachs disease and carriers. Author(s): Saruwatari AS, Schmidt BJ, Diament AJ. Source: Clinical Chemistry. 1986 June; 32(6): 1232-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2940030

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Electroretinogram and visually evoked cortical potential in Tay-Sachs disease: a report of two cases. Author(s): Honda Y, Sudo M. Source: J Pediatr Ophthalmol. 1976 July-August; 13(4): 226-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1018206

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Elevated frequency of Tay-Sachs disease among Ashkenazic Jews unlikely by genetic drift alone. Author(s): Chakravarti A, Chakraborty R. Source: American Journal of Human Genetics. 1978 May; 30(3): 256-61. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=677122

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Enzyme alterations and lipid storage in three variants of Tay-Sachs disease. Author(s): Sandhoff K, Harzer K, Wassle W, Jatzkewitz H. Source: Journal of Neurochemistry. 1971 December; 18(12): 2469-89. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5135907

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Enzyme replacement in Tay-Sachs disease. Author(s): von Specht BU, Geiger B, Arnon R, Passwell J, Keren G, Goldman B, Padeh B. Source: Neurology. 1979 June; 29(6): 848-54. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=572006

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Enzyme replacement treatment for Tay-Sachs disease brain cells in culture utilizing concanavalin A-mediated hexosaminidase A uptake: biochemical and morphological evidence of GM2 mobilization. Author(s): Brooks SE, Hoffman LM, Adachi M, Amsterdam D, Schneck L. Source: Acta Neuropathologica. 1980; 50(1): 9-17. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7376831

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Enzymic differentiation between different types of Tay-Sachs disease of similar clinical appearance. Author(s): Clausen J, Melchior JC, Paerregaard P. Source: European Neurology. 1972; 7(1): 56-64. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4336274

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Erythrocyte lipids in Tay-Sachs disease. Author(s): Booth DA. Source: Lancet. 1967 March 18; 1(7490): 626. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4163993

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Evaluation of a Tay-Sachs disease screening program. Author(s): Gason AA, Sheffield E, Bankier A, Aitken MA, Metcalfe S, Barlow Stewart K, Delatycki MB. Source: Clinical Genetics. 2003 May; 63(5): 386-92. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12752571

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Evidence for direct binding of intracellularly distributed ganglioside GM2 to isolated vimentin intermediate filaments in normal and Tay-Sachs disease human fibroblasts. Author(s): Kotani M, Hosoya H, Kubo H, Itoh K, Sakuraba H, Kusubata M, Inagaki M, Yazaki S, Suzuki Y, Tai T. Source: Cell Structure and Function. 1994 April; 19(2): 81-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7923401

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Expression of human beta-hexosaminidase alpha-subunit gene (the gene defect of Tay-Sachs disease) in mouse brains upon engraftment of transduced progenitor cells. Author(s): Lacorazza HD, Flax JD, Snyder EY, Jendoubi M. Source: Nature Medicine. 1996 April; 2(4): 424-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8597952

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Expression of the beta-hexosaminidase alpha subunit gene with the four-base insertion of infantile Jewish Tay-Sachs disease. Author(s): Nishimoto J, Tanaka A, Nanba E, Suzuki K. Source: The Journal of Biological Chemistry. 1991 August 5; 266(22): 14306-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1830584

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Fatty acid composition of cholesterol esters in brains of patients with Schilder's disease, G M1 -gangliosidosis and Tay-Sachs disease, and its possible relationship to the -position fatty acids of lecithin. Author(s): Eto Y, Suzuki K. Source: Journal of Neurochemistry. 1971 June; 18(6): 1007-16. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5567894

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Fighting Tay-Sachs disease. Author(s): Trevelyan J. Source: Nurs Times. 1989 June 14-20; 85(24): 22-3. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2748385

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Fine needle aspiration cytology of Tay-Sachs disease. A case report. Author(s): Ul Haque A. Source: Acta Cytol. 1995 July-August; 39(4): 762-5. Erratum In: Acta Cytol 1995 November-December; 39(6): 1190. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7631552

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First trimester prenatal diagnosis of Tay-Sachs disease using the sulfated synthetic substrate for hexosaminidase A. Author(s): Callahan JW, Archibald A, Skomorowski MA, Shuman C, Clarke JT. Source: Clinical Biochemistry. 1990 December; 23(6): 533-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2149678

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First-trimester prenatal diagnosis of Tay-Sachs disease. Author(s): Grabowski GA, Kruse JR, Goldberg JD, Chockkalingam K, Gordon RE, Blakemore KJ, Mahoney MJ, Desnick RJ. Source: American Journal of Human Genetics. 1984 November; 36(6): 1369-78. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6240199

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Founder effect in Tay-Sachs disease unlikely. Author(s): Myrianthopoulos NC, Naylor AF, Aronson SM. Source: American Journal of Human Genetics. 1972 May; 24(3): 341-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5028972

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Founder effect in Tay-Sachs disease. Author(s): Knudson AG Jr. Source: American Journal of Human Genetics. 1973 January; 25(1): 108. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4684502

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Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population. Author(s): Landels EC, Ellis IH, Fensom AH, Green PM, Bobrow M. Source: Journal of Medical Genetics. 1991 March; 28(3): 177-80. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1828838

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Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles. Author(s): Landels EC, Green PM, Ellis IH, Fensom AH, Kaback MM, Lim-Steele J, Zeiger K, Levy N, Bobrow M. Source: Journal of Medical Genetics. 1993 June; 30(6): 479-81. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8326491

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Further studies on the elucidation of the enzymatic defect in Tay-Sachs disease. Author(s): Kolodny EH, Brady RO. Source: Neurology. 1970 April; 20(4): 388. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5535010

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Future perspectives for Tay-Sachs disease. Author(s): Desnick RJ, Kaback MM. Source: Adv Genet. 2001; 44: 349-56. Review. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11596996

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Ganglioside-composition of brain in Tay-Sachs disease: increased amounts of GD2 and N-acetyl-beta-D-galactosaminyl GD1a ganglioside. Author(s): Iwamori M, Nagai Y. Source: Journal of Neurochemistry. 1979 March; 32(3): 767-77. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=430057

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Gangliosides containing glucosamine and galactosamine in transformed Tay-Sachs disease and normal human brain cell lines. Author(s): Schneck L, Hoffman LM, Brooks SE, Amsterdam D. Source: Journal of the Neurological Sciences. 1980 February; 45(1): 123-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6244370

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Gangliosides in SV-40-transformed cells derived from Tay-Sachs disease fetal brain. Author(s): Hoffman LM, Brooks SE, Stein MR, Adachi M, Schneck L. Source: Metabolic Brain Disease. 1989 June; 4(2): 87-93. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2547146

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Gangliosidosis with total hexosaminidase deficiency: clinical, biochemical and ultrastructural studies and comparison with conventional cases of Tay-Sachs disease. Author(s): Fontaine G, Resibois A, Tondeur M, Jonniaux G, Farriaux JP, Voet W, Maillard E, Loeb H. Source: Acta Neuropathologica. 1973 January 30; 23(2): 118-32. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4349527

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Generalized accumulation of neutral glycosphingolipids with GM2 ganglioside accumulation in the brain. Sandhoff's disease (variant of Tay-Sachs disease). Author(s): Krivit W, Desnick RJ, Lee J, Moller J, Wright F, Sweeley CC, Snyder PD Jr, Sharp HL. Source: The American Journal of Medicine. 1972 June; 52(6): 763-70. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5030173

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Genetic cause of a juvenile form of Tay-Sachs disease in a Lebanese child. Author(s): Boustany RM, Tanaka A, Nishimoto J, Suzuki K. Source: Annals of Neurology. 1991 January; 29(1): 104-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1996872

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Genetic variants of Tay-Sachs disease: Tay-Sachs disease and Sandhoff's disease in French Canadians, juvenile Tay-Sachs disease in Lebanese Canadians, and a TaySachs screening program in the French-Canadian population. Author(s): Andermann E, Scriver CR, Wolfe LS, Dansky L, Andermann F. Source: Prog Clin Biol Res. 1977; 18: 161-88. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=601075

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Glycolipids in cultured fetal Tay-Sachs disease cerebellar cells. Author(s): Schneck L, Hoffman LM, Amsterdam D, Brooks S, Pinkett B. Source: Advances in Experimental Medicine and Biology. 1976; 68: 495-507. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=937117

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Glycoproteins in Tay-sachs disease: isolation and carbohydrate composition of glycopeptides. Author(s): Brunngraber EG, Witting LA, Haberland C, Brown B. Source: Brain Research. 1972 March 10; 38(1): 151-62. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4259417

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Glycosphingolipids in fetal Tay-Sachs disease brain and lung cultures. Author(s): Hoffman LM, Amsterdam D, Brooks SE, Schneck L. Source: Journal of Neurochemistry. 1977 September; 29(3): 551-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=894310

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GM2 ganglioside in fetal Tay-Sachs disease brain cultures: a model system for the disease. Author(s): Hoffman LM, Amsterdam D, Schneck L. Source: Brain Research. 1976 July 23; 111(1): 109-17. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=953690

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Hair-roots in screening and diagnosis of Tay-Sachs disease. Author(s): Hosli P, Amsterdam D, Schneck L, Volk BW. Source: Lancet. 1977 February 5; 1(8006): 285-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=64809

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Has Tay-Sachs disease become common? Author(s): Hampton PC, Schach SR, Koeslag JH. Source: South African Medical Journal. Suid-Afrikaanse Tydskrif Vir Geneeskunde. 1993 December; 83(12): 877-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8115908

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Health behavior and genetic screening for carriers of Tay-Sachs disease: a prospective study. Author(s): Goldstein MS, Greenwald S, Nathan T, Massarik F, Kaback MM. Source: Social Science & Medicine (1982). 1977 May; 11(8-9): 515-20. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=929244

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Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain. Author(s): van Bael M, Natowicz MR, Tomczak J, Grebner EE, Prence EM. Source: Journal of Medical Genetics. 1996 October; 33(10): 829-32. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8933335

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Heterozygote screening for Tay-Sachs disease: past successes and future challenges. Author(s): Natowicz MR, Prence EM. Source: Current Opinion in Pediatrics. 1996 December; 8(6): 625-9. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9018448

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Hexosaminidase A analysis of various biological fluids by pH inactivation for the identification of Tay-Sachs disease genotypes. Author(s): Saifer A, Perle G. Source: Prog Clin Biol Res. 1977; 18: 227-38. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=23555

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Hexosaminidase A in tears and saliva for rapid identification of Tay-Sachs disease and its carriers. Author(s): Singer JD, Cotlier E, Krimmer R. Source: Lancet. 1973 November 17; 2(7838): 116-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4128049

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Hexosaminidase C in brain affected by Tay-Sachs Disease. Author(s): Minami R, Nakamura F, Oyanagi K, Nakao T. Source: The Tohoku Journal of Experimental Medicine. 1981 February; 133(2): 175-85. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7268761

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Hexosaminidase contamination in bovine serum albumin: a potential problem in screening for gene carriers of Tay-Sachs disease. Author(s): Chen SH, Gordon C, Scott CR. Source: Clinical Chemistry. 1991 August; 37(8): 1462-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1831073

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Histological observation of the brain of Tay-Sachs disease with seizure and chronic DPH intoxication--report of an autopsy case. Author(s): Moriwaki S, Takashima S, Yoshida H, Kawano N, Goto M. Source: Acta Pathol Jpn. 1977 May; 27(3): 387-407. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=200060

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Identification of an altered splice site in Ashkenazi Tay-Sachs disease. Author(s): Arpaia E, Dumbrille-Ross A, Maler T, Neote K, Tropak M, Troxel C, Stirling JL, Pitts JS, Bapat B, Lamhonwah AM, et al. Source: Nature. 1988 May 5; 333(6168): 85-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3362213

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Identification of Tay-Sachs disease carriers by acrylamide gel electrophoresis. Author(s): Friedland J, Schneck L, Saifer A, Pourfar M, Volk BW. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1970 June; 28(3): 397-402. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5450163

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Immunochemical characterization of human beta-D-N-acetyl hexosaminidase from normal individuals and patients with Tay-Sachs disease. I. Antigenic differences between hexosaminidase A and hexosaminidase B. Author(s): Bartholomew WR, Rattazzi MC. Source: Int Arch Allergy Appl Immunol. 1974; 46(4): 512-24. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4132060

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Immunohistochemical demonstration of GM2-ganglioside in the central nervous system of a 19-week-old fetus of Tay-Sachs disease. Author(s): Taniike M, Inui K, Hirabayashi Y, Tsukamoto H, Nishimoto J, Midorikawa M, Okada S, Yabuuchi H. Source: Journal of Inherited Metabolic Disease. 1989; 12 Suppl 2: 372-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2512447

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Impaired sulphated glycosaminoglycan metabolism in a patient with GM-2 gangliosidosis (Tay-Sachs disease). Author(s): Toma L, Pinto W, Rodrigues VC, Dietrich CP, Nader HB. Source: Journal of Inherited Metabolic Disease. 1990; 13(5): 721-31. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2174089

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Inheritance of the enzyme deficiency in three neurolipidoses: variant 0 of Tay-Sachs disease (Sandhoff's disease), classic Tay-Sachs disease, and metachromatic leukodystrophy. Identification of the heterozygous carriers. Author(s): Harzer K. Source: Humangenetik. 1973; 20(1): 9-24. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4776531

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Intravenous injection of purified hexosaminidase A into a patient with Tay-Sachs disease. Author(s): Johnson WG, Desnick RJ, Long DM, Sharp HL, Krivit W, Brady B, Brady RO. Source: Birth Defects Orig Artic Ser. 1973 March; 9(2): 120-4. Review. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4611523

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Introduction of the alpha subunit mutation associated with the B1 variant of TaySachs disease into the beta subunit produces a beta-hexosaminidase B without catalytic activity. Author(s): Brown CA, Neote K, Leung A, Gravel RA, Mahuran DJ. Source: The Journal of Biological Chemistry. 1989 December 25; 264(36): 21705-10. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2532211

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Is Tay-Sachs disease increasing? Author(s): Shaw RF, Smith AP. Source: Nature. 1969 December 20; 224(225): 1214-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5360551

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Is the presence of two different Tay-Sachs disease mutations in a Cajun population an unexpected observation? Author(s): Zlotogora J. Source: American Journal of Human Genetics. 1993 May; 52(5): 1014-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8488832

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Isolation of cDNA clones coding for the alpha-subunit of human betahexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease. Author(s): Korneluk RG, Mahuran DJ, Neote K, Klavins MH, O'Dowd BF, Tropak M, Willard HF, Anderson MJ, Lowden JA, Gravel RA. Source: The Journal of Biological Chemistry. 1986 June 25; 261(18): 8407-13. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3013851

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Juvenile GM2 gangliosidosis. Biochemical and ultrastructural studies on a new variant of Tay-Sachs disease. Author(s): Menkes JH, O'Brien JS, Okada S, Grippo J, Andrews JM, Cancilla PA. Source: Archives of Neurology. 1971 July; 25(1): 14-22. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5146406

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Juvenile GM2-gangliosidosis. Clinical variant of Tay-Sachs disease or a new disease. Author(s): Suzuki K, Rapin I, Suzuki Y, Ishii N. Source: Neurology. 1970 February; 20(2): 190-204. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5460705

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Juvenile Sandhoff Disease: complementation tests with Sandhoff and Tay-Sachs disease using polyethylene glycol-induced cell fusion. Author(s): Wood S. Source: Human Genetics. 1978 April 24; 41(3): 325-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=417993

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Knowledge and attitudes toward Tay-Sachs disease among a college student population. Author(s): Austein CF, Seashore MR, Mick SS. Source: Yale J Biol Med. 1981 September-October; 54(5): 345-54. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7336765

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Late-onset Tay-Sachs disease as a Friedreich ataxia phenocopy. Author(s): Perlman SL. Source: Archives of Neurology. 2002 November; 59(11): 1832; Author Reply 1832. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12433276

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Late-onset Tay-Sachs disease presenting as catatonic schizophrenia: diagnostic and treatment issues. Author(s): Rosebush PI, MacQueen GM, Clarke JT, Callahan JW, Strasberg PM, Mazurek MF. Source: The Journal of Clinical Psychiatry. 1995 August; 56(8): 347-53. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7635850

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Late-onset Tay-Sachs disease. Author(s): Neudorfer O, Kolodny EH. Source: Isr Med Assoc J. 2004 February; 6(2): 107-11. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14986470

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Letter: Amniocentesis in Tay-Sachs disease. Author(s): Rosner F. Source: Jama : the Journal of the American Medical Association. 1974 May 13; 228(7): 829. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4406299

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Letter: Demographic data as graphic aid in screening program for Tay-Sachs disease. Author(s): Gardner LI, Meltzer SL. Source: The Journal of Pediatrics. 1975 October; 87(4): 664-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1159604

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Letter: Possible hazards in screening of adolescents for Tay-Sachs disease. Author(s): Stone MH. Source: The New England Journal of Medicine. 1976 July 8; 295(2): 113. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1272314

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Letter: Prenatal diagnosis of Tay-Sachs disease. Author(s): Milunsky A. Source: Lancet. 1973 December 22; 2(7843): 1442. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4128752

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Letter: Prenatal diagnosis of Tay-Sachs disease. Author(s): Ellis RB, Ikonne JU, Patrick AD, Stephens R, Willcox P. Source: Lancet. 1973 November 17; 2(7838): 1144-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4128028

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Letter: Screening for carriers of Tay-Sachs disease. Author(s): Jackson LG, Glazerman LR, Faust HS, Nimoityn P. Source: Jama : the Journal of the American Medical Association. 1974 August 5; 229(6): 640. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4408282

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Letter: Screening for Tay-Sachs disease. Author(s): Scriver CR, Gold RJ. Source: Can Med Assoc J. 1974 November 2; 111(9): 899-900. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4420059

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Letter: Screening for Tay-Sachs disease. Author(s): Evans PR, Ellis RB. Source: Lancet. 1974 March 30; 1(7857): 575-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4132029

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Letter: Screening for Tay-Sachs disease. Author(s): Rosner F. Source: Lancet. 1974 March 2; 1(7853): 359. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4131207

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Letter: Tay-sachs disease. Author(s): Pearlmutter FA. Source: Jama : the Journal of the American Medical Association. 1974 October 7; 230(1): 38. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4479221

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Letter: Use of demographic data in screening for Tay-Sachs disease. Author(s): Nimoityn P, Faust HS, Glazerman LR, Jackson LG. Source: The Journal of Pediatrics. 1976 July; 89(1): 162. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=932893

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Long-term intracellular retention of hexosaminidase A by Tay-Sachs disease brain and lung cells in vitro. Author(s): Brooks SE, Hoffman LM, Amsterdam D, Adachi M, Schneck L. Source: Journal of Neuroscience Research. 1981; 6(3): 381-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6457913

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Lower frequency of Gaucher disease carriers among Tay-Sachs disease carriers. Author(s): Peleg L, Frisch A, Goldman B, Karpaty M, Narinsky R, Bronstein S, Frydman M. Source: European Journal of Human Genetics : Ejhg. 1998 March-April; 6(2): 185-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9781065

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Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry as a rapid screening method to detect mutations causing Tay-Sachs disease. Author(s): Srinivasan JR, Liu YH, Venta PJ, Siemieniak D, Killeen AA, Zhu Y, Lubman DM. Source: Rapid Communications in Mass Spectrometry : Rcm. 1997; 11(10): 1144-50. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9218358

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Membranous cytoplasmic bodies from Tay-Sachs disease. Gm-1-gangliosidosis (generalized gangliosidosis). Author(s): Suzuki K, Chen GC. Source: Journal of Neuropathology and Experimental Neurology. 1968 January; 27(1): 142-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5656560

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Mental retardation in children. III. Tay-Sachs disease and infantile lipid storage disorders with visceral involvement. Author(s): Joshua GE, Bhaktaviziam A, Bala VI. Source: Indian Pediatrics. 1974 May; 11(5): 369-76. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4214767

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Molecular characterization of both alleles in an unusual Tay-Sachs disease B1 variant. Author(s): Coulter-Mackie MB. Source: American Journal of Human Genetics. 1994 June; 54(6): 1126-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8198136

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Molecular epidemiology of Tay-Sachs disease in Europe. Author(s): Poenaru L, Akli S. Source: Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie. 1994; 48(8-9): 341-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7858168

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Molecular epidemiology of Tay-Sachs disease. Author(s): Risch N. Source: Adv Genet. 2001; 44: 233-52. Review. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11596986

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Molecular forms of beta-N-acetylhexosaminidase in Epstein-Barr virus-transformed lymphoid cell lines from normal subjects and patients with Tay-Sachs disease. Author(s): Salvayre R, Maret A, Negre A, Lenoir G, Vuillaume M, Icart J, Didier J, Douste-Blazy L. Source: European Journal of Biochemistry / Febs. 1983 July 1; 133(3): 627-33. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6305653

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Molecular genetics of Tay-Sachs disease in Japan. Author(s): Tanaka A, Sakazaki H, Murakami H, Isshiki G, Suzuki K. Source: Journal of Inherited Metabolic Disease. 1994; 17(5): 593-600. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7837766

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Molecular mechanism of Tay-Sachs disease. Author(s): Lester R, Hill MW, Bangham AD. Source: Nature. 1972 March 3; 236(5340): 32-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4553636

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More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians. Author(s): Hechtman P, Kaplan F, Bayleran J, Boulay B, Andermann E, de Braekeleer M, Melancon S, Lambert M, Potier M, Gagne R, et al. Source: American Journal of Human Genetics. 1990 November; 47(5): 815-22. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2220821

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MR findings in Tay-Sachs disease. Author(s): Mugikura S, Takahashi S, Higano S, Kurihara N, Kon K, Sakamoto K. Source: Journal of Computer Assisted Tomography. 1996 July-August; 20(4): 551-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8708054

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MRI in the early stage of Tay-Sachs disease. Author(s): Yoshikawa H, Yamada K, Sakuragawa N. Source: Neuroradiology. 1992; 34(5): 394-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1407517

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Multiple abnormal beta-hexosaminidase alpha chain mRNAs in a compoundheterozygous Ashkenazi Jewish patient with Tay-Sachs disease. Author(s): Ohno K, Suzuki K. Source: The Journal of Biological Chemistry. 1988 December 5; 263(34): 18563-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2973464

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Multiplexed fluorescence analysis for mutations causing Tay-Sachs disease. Author(s): Stockley TL, Ray PN. Source: Methods in Molecular Biology (Clifton, N.J.). 2003; 217: 131-41. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12491928

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Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England. Author(s): Triggs-Raine B, Richard M, Wasel N, Prence EM, Natowicz MR. Source: American Journal of Human Genetics. 1995 April; 56(4): 870-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7717398

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Naturally occurring GM2 gangliosidosis in two Muntjak deer with pathological and biochemical features of human classical Tay-Sachs disease (type B GM2 gangliosidosis). Author(s): Fox J, Li YT, Dawson G, Alleman A, Johnsrude J, Schumacher J, Homer B. Source: Acta Neuropathologica. 1999 January; 97(1): 57-62. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9930895

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Neuropsychiatric aspects of adult-onset Tay-Sachs disease: two case reports with several new findings. Author(s): Hurowitz GI, Silver JM, Brin MF, Williams DT, Johnson WG. Source: The Journal of Neuropsychiatry and Clinical Neurosciences. 1993 Winter; 5(1): 30-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8428133

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Neuropsychiatric aspects of the adult variant of Tay-Sachs disease. Author(s): MacQueen GM, Rosebush PI, Mazurek MF. Source: The Journal of Neuropsychiatry and Clinical Neurosciences. 1998 Winter; 10(1): 10-9. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9547461

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Tay-Sachs Disease

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NN'-diacetylchitobiase activity in Tay-Sachs disease and Sandhoff's disease. Author(s): Stirling JL. Source: The Biochemical Journal. 1974 August; 141(2): 597-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4455225

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Not preventing--yet, just avoiding Tay-Sachs disease. Author(s): Scriver CR. Source: Adv Genet. 2001; 44: 267-74. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11596989

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Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease. Author(s): Akerman BR, Natowicz MR, Kaback MM, Loyer M, Campeau E, Gravel RA. Source: American Journal of Human Genetics. 1997 May; 60(5): 1099-106. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9150157

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Novel mutations, including the second most common in Japan, in the betahexosaminidase alpha subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease. Author(s): Tanaka A, Fujimaru M, Choeh K, Isshiki G. Source: Journal of Human Genetics. 1999; 44(2): 91-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10083731

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Novel Tay-Sachs disease mutations from China. Author(s): Akalin N, Shi HP, Vavougios G, Hechtman P, Lo W, Scriver CR, Mahuran D, Kaplan F. Source: Human Mutation. 1992; 1(1): 40-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1301190

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Observations on time course changes of the cherry red spot in a patient with TaySachs disease. Author(s): Nakaya-Onishi M, Suzuki A, Okamoto N, Fukada M. Source: The British Journal of Ophthalmology. 2000 November; 84(11): 1320-1. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11203170

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Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis. Author(s): Frisch A, Colombo R, Michaelovsky E, Karpati M, Goldman B, Peleg L. Source: Human Genetics. 2004 March; 114(4): 366-76. Epub 2004 January 15. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14727180

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Pathological alterations typical of human Tay-Sachs disease, in the retina of a deepsea fish. Author(s): Fishelson L, Delarea Y, Galil BS. Source: Die Naturwissenschaften. 2000 August; 87(8): 363-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11013889

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PCR analysis of hair root specimens to detect Tay-Sachs disease carriers in Ashkenazi Jews. Author(s): Brillante R, Yang V, Proos A, Burnett L. Source: Clinical Chemistry. 1995 February; 41(2): 321-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7874790

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Perspectives on screening and prevention of Tay-Sachs disease in Israel. Author(s): Padeh B, Shacher S, Katznelson MB, Navon R, Goldman B. Source: Prog Clin Biol Res. 1977; 18: 47-53. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=601094

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Picture of the month. Tay-Sachs disease. Author(s): Arisoy AE, Ozden S, Arisoy ES, Kocabay K, Guvenc H, Tunnessen WW Jr. Source: Am J Dis Child. 1992 June; 146(6): 767-8. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1534438

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Pitfalls in the prenatal diagnosis of Tay-Sachs disease. Author(s): O'Brien JS. Source: Prog Clin Biol Res. 1977; 18: 283-94. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=414239

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Pitfalls in the prenatal diagnosis of Tay-Sachs disease. Author(s): Michael CA, Hahnel R, Hockey A, Wysocki S. Source: Aust Paediatr J. 1974 February; 10(1): 23-4. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4853651

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Population dynamics of Tay-Sachs disease. I. Reproductive fitness and selection. Author(s): Myrianthopoulos NC, Aronson SM. Source: American Journal of Human Genetics. 1966 July; 18(4): 313-27. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5945951

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Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model. Author(s): Kaback MM. Source: European Journal of Pediatrics. 2000 December; 159 Suppl 3: S192-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11216898

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Tay-Sachs Disease

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Preimplantation genetic diagnosis for Tay-Sachs disease: successful pregnancy after pre-embryo biopsy and gene amplification by polymerase chain reaction. Author(s): Gibbons WE, Gitlin SA, Lanzendorf SE, Kaufmann RA, Slotnick RN, Hodgen GD. Source: Fertility and Sterility. 1995 April; 63(4): 723-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7890054

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Prenatal diagnosis and fetal pathology of Tay-Sachs disease. Author(s): Higami S, Nishizawa K, Omura K, Sugimoto K, Isshiki G. Source: The Tohoku Journal of Experimental Medicine. 1976 April; 118(4): 323-30. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=936207

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Prenatal diagnosis for Tay-Sachs disease using chorionic villus sampling. Author(s): Grebner EE, Jackson LG. Source: Prenatal Diagnosis. 1985 September-October; 5(5): 313-20. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2933645

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Prenatal diagnosis of a Japanese family at risk for Tay-Sachs disease. Application of a fluorescent competitive allele-specific polymerase chain reaction (PCR) method. Author(s): Tamasu S, Nishio H, Ayaki H, Lee MJ, Mizutori M, Takeshima Y, Nakamura H, Matsuo M, Maruo T, Sumino K. Source: The Kobe Journal of Medical Sciences. 1999 December; 45(6): 259-70. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10985159

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Prenatal diagnosis of atypical Tay-Sachs disease by chorionic villi sampling. Author(s): Besancon AM, Belon JP, Castelnau L, Dumez Y, Poenaru L. Source: Prenatal Diagnosis. 1984 September-October; 4(5): 365-70. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6504850

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Prenatal diagnosis of Tay-Sachs disease in cell-free amniotic fluid. Author(s): Christomanou H, Cap C, Sandhoff K. Source: Klin Wochenschr. 1978 November 15; 56(22): 1133-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=713433

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Prenatal diagnosis of Tay-Sachs disease with heat-labile beta-hexosaminidase B. Author(s): Momoi T, Kikuchi K, Shigematsu Y, Sudo M, Tanioka K. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1983 October 14; 133(3): 331-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6226459

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Prenatal diagnosis of Tay-Sachs disease. Author(s): Ambani LM, Bhatia RS, Shah SB, Apte BN. Source: Indian Pediatrics. 1989 October; 26(10): 1052-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2630450

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Prenatal diagnosis of Tay-Sachs disease. Author(s): Dreyfus JC, Poenaru L. Source: Lancet. 1979 June 16; 1(8129): 1296. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=87758

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Prenatal diagnosis of Tay-Sachs disease. Author(s): Schneck L, Valenti C, Amsterdam D, Friedland J, Adachi M, Volk BW. Source: Lancet. 1970 March 21; 1(7647): 582-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4190540

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Prenatal diagnosis of Tay-Sachs disease. Reflectometry of hexosaminidase A, B, and C/S bands on zymograms. Author(s): Kustermann-Kuhn B, Harzer K. Source: Human Genetics. 1983; 65(2): 172-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6228513

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Prenatal diagnosis of Tay-Sachs disease: studies on the reliability of hexosaminidase levels in amniotic fluid. Author(s): Grebner EE, Jackson LG. Source: American Journal of Obstetrics and Gynecology. 1979 July 1; 134(5): 547-50. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=453293

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Prenatal exclusion of Tay-Sachs disease by DNA analysis. Author(s): Triggs-Raine BL, Archibald A, Gravel RA, Clarke JT. Source: Lancet. 1990 May 12; 335(8698): 1164. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1971898

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Prenatal screening for Tay-Sachs disease by Louisiana obstetricians: a survey study. Author(s): Hill LW, Schorr SJ. Source: Southern Medical Journal. 2001 September; 94(9): 910-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11592753

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Prenatal testing for Tay-Sachs disease in the light of Jewish views regarding abortion. Author(s): Baskin J. Source: Issues Health Care Women. 1983 January-February; 4(1): 41-56. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6553058

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Primer system for single cell detection of double mutation for Tay-Sachs disease. Author(s): Liu MC, Drury KC, Kipersztok S, Zheng W, Williams RS. Source: Journal of Assisted Reproduction and Genetics. 2000 February; 17(2): 121-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10806593

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Ptosis in late infantile Tay-Sachs disease. Author(s): Devidayal, Marwaha RK, Singh P, Trehan A. Source: Indian J Pediatr. 2001 May; 68(5): 463-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11407166

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Rapid nonradioactive tracer method for detecting carriers of the major Ashkenazi Jewish Tay-Sachs disease mutations. Author(s): Strasberg PM, Clarke JT. Source: Clinical Chemistry. 1992 November; 38(11): 2249-55. Erratum In: Clin Chem 1993 February; 39(2): 371. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1424119

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Rapid test for the detection of Tay-Sachs disease heterozygotes and homozygotes by serum hexosaminidase assay. Author(s): Saifer A, Rosenthal AL. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1973 February 12; 43(3): 417-21. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4690912

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Retinal amacrine cell involvement in Tay-Sachs disease. Author(s): Nagashima K, Kikuchi F, Suzuki Y, Abe T. Source: Acta Neuropathologica. 1981; 53(4): 333-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7223376

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Role of genetic drift in the high frequency of Tay-Sachs disease among Ashkenazic Jews. Author(s): Yokoyama S. Source: Annals of Human Genetics. 1979 October; 43(2): 133-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=525971

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Role of the physician in screening for carriers of Tay-Sachs disease. Author(s): Lowden JA. Source: Can Med Assoc J. 1978 September 23; 119(6): 575-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=709448

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Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. I. Statistical methods. Author(s): Cantor RM, Lim JS, Roy C, Kaback MM. Source: American Journal of Human Genetics. 1985 September; 37(5): 912-21. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4050790

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Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. II. Sandhoff disease gene frequencies in American Jewish and non-Jewish populations. Author(s): Cantor RM, Roy C, Lim JS, Kaback MM. Source: American Journal of Human Genetics. 1987 July; 41(1): 16-26. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2955697

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Screening and prevention in Tay-Sachs disease: origins, update, and impact. Author(s): Kaback MM. Source: Adv Genet. 2001; 44: 253-65. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11596988

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Screening and prevention of Tay-Sachs disease in Israel. Author(s): Padeh B, Shachar S, Modan M, Goldman B. Source: Monogr Hum Genet. 1978; 9: 170-5. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=732836

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Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests. Author(s): Triggs-Raine BL, Feigenbaum AS, Natowicz M, Skomorowski MA, Schuster SM, Clarke JT, Mahuran DJ, Kolodny EH, Gravel RA. Source: The New England Journal of Medicine. 1990 July 5; 323(1): 6-12. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2355960

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Screening for carriers of Tay-Sachs disease in the ultraorthodox Ashkenazi Jewish community in Israel. Author(s): Broide E, Zeigler M, Eckstein J, Bach G. Source: American Journal of Medical Genetics. 1993 August 15; 47(2): 213-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8213907

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Screening for carriers of Tay-Sachs disease: A community project. Author(s): Lowden JA, Zuker S, Wilensky AJ, Skomorowski MA. Source: Can Med Assoc J. 1974 August 3; 111(3): 229-33. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4854206

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Screening for carriers of Tay-Sachs disease: two approaches. Author(s): Clarke JT. Source: Can Med Assoc J. 1978 September 23; 119(6): 549-50. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=709442

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Screening for reproductive counseling: social, ethical, and medicolegal issues in the Tay-Sachs disease experience. Author(s): Kaback MM. Source: Prog Clin Biol Res. 1982; 103 Pt B: 447-59. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7163239

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Screening for Tay-Sachs disease in utero using amniotic fluid. Author(s): Friedland J, Perle G, Saifer A, Schneck L, Volk BW. Source: Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N. Y.). 1971 April; 136(4): 1297-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5554477

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Screening for Tay-Sachs disease. Author(s): Barnett HB, Johnson JC, Spence MW. Source: Can Med Assoc J. 1981 November 1; 125(9): 963. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7199369

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Screening for Tay-Sachs disease. Author(s): Sacks L. Source: South African Medical Journal. Suid-Afrikaanse Tydskrif Vir Geneeskunde. 1978 December 30; 54(27): 1120. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=746478

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Screening for Tay-Sachs disease. Author(s): Naiman H. Source: The American Journal of Nursing. 1975 March; 75(3): 436-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1038314

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Screening for Tay-Sachs disease: a note of caution. Author(s): Rosner F. Source: J Clin Ethics. 1991 Winter; 2(4): 251-2. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1804394

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Screening people of Jewish origin for Tay-Sachs disease carriers. Author(s): Hecht F. Source: Ariz Med. 1981 January; 38(1): 21-3. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7283776

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Screening program for Tay-Sachs disease. Author(s): Eisen JD, Baker JS. Source: Nebr Med J. 1973 May; 58(5): 166-7. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4697954

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Screening programs for Tay-Sachs disease in North Carolina. Author(s): Rivin BE, Slome C. Source: N C Med J. 1977 November; 38(11): 649-51. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=270612

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Separation of N-acetyl- -D-hexosaminamidase-isoenzymes from human brain and leukocytes by cellulose acetate paper electrophoresis: a simple procedure for the diagnosis of Tay-Sachs disease. Author(s): Klibansky C. Source: Isr J Med Sci. 1971 September; 7(9): 1086-9. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5151274

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Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease. Author(s): Triggs-Raine BL, Akerman BR, Clarke JT, Gravel RA. Source: American Journal of Human Genetics. 1991 November; 49(5): 1041-54. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1833974

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Serum aldolase in Tay-Sachs disease and in fructose intolerance. Author(s): Hue L, Van Hoof F, Hers HG. Source: The American Journal of Medicine. 1971 December; 51(6): 785-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5129546

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Sickle cell disease, the thalassemias, Tay-Sachs disease: protein to gene. Author(s): Robinson A. Source: Cmaj : Canadian Medical Association Journal = Journal De L'association Medicale Canadienne. 1993 May 1; 148(9): 1481-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8097426

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Simultaneous amplification of the two most frequent mutations of infantile TaySachs disease in single blastomeres. Author(s): Sermon K, Lissens W, Nagy ZP, Van Steirteghem A, Liebaers I. Source: Human Reproduction (Oxford, England). 1995 August; 10(8): 2214-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8567876

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Social aspects of genetic screening for Tay-Sachs disease: the pilot community screening program in Baltimore and Washington. Author(s): McQueen DV. Source: Soc Biol. 1975 Summer; 22(2): 125-33. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1198132

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Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazic Jews. Author(s): Fernandes MJ, Kaplan F, Clow CL, Hechtman P, Scriver CR. Source: Genetic Epidemiology. 1992; 9(3): 169-75. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1387862

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Spinal ganglia and peripheral nerves from a patent with Tay-Sachs disease. Morphological and ganglioside studies. Author(s): Abe T, Ogawa K, Fuziwara H, Urayama K, Nagashima K. Source: Acta Neuropathologica. 1985; 66(3): 239-44. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2990149

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Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group. Author(s): Myerowitz R. Source: Proceedings of the National Academy of Sciences of the United States of America. 1988 June; 85(11): 3955-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3375249

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Studies of red cell stromal proteins in Tay-Sachs disease. Author(s): Balint JA, Kyriakides EC. Source: The Journal of Clinical Investigation. 1968 August; 47(8): 1858-64. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5666115

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Studies on cerebral lipidosis. Prenatal diagnosis of Tay-Sachs disease. Author(s): Yabuuchi H, Sumi K, Kurachi K, Hanai J. Source: Acta Paediatr Jpn. 1971 December; 13(2): 13-6. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5004836

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Synthesis of beta-hexosaminidase in cell-free translation and in intact fibroblasts: an insoluble precursor alpha chain in a rare form of Tay-Sachs disease. Author(s): Proia RL, Neufeld EF. Source: Proceedings of the National Academy of Sciences of the United States of America. 1982 October; 79(20): 6360-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6959123

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Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease. Author(s): Yamanaka S, Johnson MD, Grinberg A, Westphal H, Crawley JN, Taniike M, Suzuki K, Proia RL. Source: Proceedings of the National Academy of Sciences of the United States of America. 1994 October 11; 91(21): 9975-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7937929

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Tay-Sachs disease and HEXA mutations among Moroccan Jews. Author(s): Kaufman M, Grinshpun-Cohen J, Karpati M, Peleg L, Goldman B, Akstein E, Adam A, Navon R. Source: Human Mutation. 1997; 10(4): 295-300. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9338583

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Tay-Sachs disease and preimplantation genetic diagnosis. Author(s): Hansis C, Grifo J. Source: Adv Genet. 2001; 44: 311-5. Review. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11596992

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Tay-Sachs disease as a model for screening inborn errors. Author(s): Blitzer MG, McDowell GA. Source: Clin Lab Med. 1992 September; 12(3): 463-80. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1355703

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Tay-Sachs disease carrier screening: a 21-year experience. Author(s): D'Souza G, McCann CL, Hedrick J, Fairley C, Nagel HL, Kushner JD, Kessel R. Source: Genetic Testing. 2000; 4(3): 257-63. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11142756

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Tay-Sachs disease carrier screening: a model for prevention of genetic disease. Author(s): Kaplan F. Source: Genetic Testing. 1998; 2(4): 271-92. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10464605

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Tay-Sachs disease carrier screening: follow-up of a case-finding approach. Author(s): Clarke JT, Skomorowski MA, Zuker S. Source: American Journal of Medical Genetics. 1989 December; 34(4): 601-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2624277

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Tay-Sachs disease heterozygote detection: use of a centrifugal analyser for automation of hexosaminidase assays with two different artificial substrates. Author(s): Landels EC, Ellis IH, Bobrow M, Fensom AH. Source: Journal of Medical Genetics. 1991 February; 28(2): 101-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1825851

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Tay-Sachs disease in an Israeli Arab family: Trp26-->stop in the alpha-subunit of hexosaminidase A. Author(s): Drucker L, Navon R. Source: Human Mutation. 1993; 2(5): 415-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8257995

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Tay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alphasubunit of beta-hexosaminidase. Author(s): Navon R, Proia RL. Source: American Journal of Human Genetics. 1991 February; 48(2): 412-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1825014

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Tay-Sachs disease in persons of French-Canadian heritage in northern New England. Author(s): Palomaki GE, Williams J, Haddow JE, Natowicz MR. Source: American Journal of Medical Genetics. 1995 May 8; 56(4): 409-12. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7604851

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Tay-Sachs disease screening and counseling families at risk for metabolic disease. Author(s): Sutton VR. Source: Obstetrics and Gynecology Clinics of North America. 2002 June; 29(2): 287-96. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12108829

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Tay-Sachs disease screening and diagnosis: evolving technologies. Author(s): Hechtman P, Kaplan F. Source: Dna and Cell Biology. 1993 October; 12(8): 651-65. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8397824

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Tay-Sachs disease with atypical chronic course and limited brain storage: alpha-locus hexosaminidase genetic compound. Author(s): Philippart M, Carrel RE, Landing BH. Source: Neurochemical Research. 1995 November; 20(11): 1323-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8786818

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Tay-Sachs disease, wrongful life, and preventive malpractice. Author(s): Curran WJ. Source: Am J Public Health Nations Health. 1977 June; 67(6): 568-9. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11664858

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Tay-Sachs disease. Author(s): Gelbart M. Source: Nurs Times. 1998 March 18-24; 94(11): 39. Review. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9697531

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Tay-Sachs disease: a case report. Author(s): Arisoy AE, Ozden S, Ciliv G, Ozalp I. Source: Turk J Pediatr. 1995 January-March; 37(1): 51-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7732608

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Tay-Sachs disease: B1 variant. Author(s): Gordon BA, Gordon KE, Hinton GG, Cadera W, Feleki V, Bayleran J, Hechtman P. Source: Pediatric Neurology. 1988 January-February; 4(1): 54-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2976595

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Tay-Sachs disease: from clinical description to molecular defect. Author(s): Kaback MM, Desnick RJ. Source: Adv Genet. 2001; 44: 1-9. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11596975

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Tay-Sachs disease: intron 7 splice junction mutation in two Portuguese patients. Author(s): Ribeiro MG, Pinto R, Miranda MC, Suzuki K. Source: Biochimica Et Biophysica Acta. 1995 January 25; 1270(1): 44-51. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7827134

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Tay-Sachs disease: progression of changes on neuroimaging in four cases. Author(s): Fukumizu M, Yoshikawa H, Takashima S, Sakuragawa N, Kurokawa T. Source: Neuroradiology. 1992; 34(6): 483-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1436455

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Tay-Sachs disease: psychologic care of carriers and affected families. Author(s): Schweitzer-Miller L. Source: Adv Genet. 2001; 44: 341-7. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11596995

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Tay-Sachs disease: the search for the enzymatic defect. Author(s): Brady RO. Source: Adv Genet. 2001; 44: 51-60. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11596998

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Tay-Sachs disease: to screen or not to screen. Author(s): Rosner F. Source: Tradition. 1976 Spring; 15(4): 101-12. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11660898

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Tay-Sachs disease: to screen or not to screen? Author(s): Rosner F. Source: Journal of Religion and Health. 1976 October; 15(4): 271-81. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11663277

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Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network. Author(s): Kaback M, Lim-Steele J, Dabholkar D, Brown D, Levy N, Zeiger K. Source: Jama : the Journal of the American Medical Association. 1993 November 17; 270(19): 2307-15. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8230592

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Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene. Author(s): Myerowitz R. Source: Human Mutation. 1997; 9(3): 195-208. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9090523

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The Dor Yeshorim story: community-based carrier screening for Tay-Sachs disease. Author(s): Ekstein J, Katzenstein H. Source: Adv Genet. 2001; 44: 297-310. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11596991

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The French Canadian Tay-Sachs disease deletion mutation: identification of probable founders. Author(s): De Braekeleer M, Hechtman P, Andermann E, Kaplan F. Source: Human Genetics. 1992 April; 89(1): 83-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1577470

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The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada. Author(s): Hechtman P, Boulay B, De Braekeleer M, Andermann E, Melancon S, Larochelle J, Prevost C, Kaplan F. Source: Human Genetics. 1992 December; 90(4): 402-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1483696

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The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase. Author(s): Myerowitz R, Costigan FC. Source: The Journal of Biological Chemistry. 1988 December 15; 263(35): 18587-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2848800

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The major mutation among Japanese patients with infantile Tay-Sachs disease: a Gto-T transversion at the acceptor site of intron 5 of the beta-hexosaminidase alpha gene. Author(s): Tanaka A, Sakuraba H, Isshiki G, Suzuki K. Source: Biochemical and Biophysical Research Communications. 1993 April 30; 192(2): 539-46. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8484765

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The molecular basis of HEXA mRNA deficiency caused by the most common TaySachs disease mutation. Author(s): Boles DJ, Proia RL. Source: American Journal of Human Genetics. 1995 March; 56(3): 716-24. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7887427

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The molecular basis of Tay-Sachs disease: mutation identification and diagnosis. Author(s): Mahuran DJ, Triggs-Raine BL, Feigenbaum AJ, Gravel RA. Source: Clinical Biochemistry. 1990 October; 23(5): 409-15. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2147596

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The mutation mechanism causing juvenile-onset Tay-Sachs disease among Lebanese. Author(s): Hechtman P, Boulay B, Bayleran J, Andermann E. Source: Clinical Genetics. 1989 May; 35(5): 364-75. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2527097

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The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease. Author(s): Navon R, Proia RL. Source: Science. 1989 March 17; 243(4897): 1471-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2522679

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The presence of two different infantile Tay-Sachs disease mutations in a Cajun population. Author(s): McDowell GA, Mules EH, Fabacher P, Shapira E, Blitzer MG. Source: American Journal of Human Genetics. 1992 November; 51(5): 1071-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1307230

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The search for the genetic lesion in Ashkenazi Jews with Classic Tay-Sachs disease. Author(s): Myerowitz R. Source: Adv Genet. 2001; 44: 137-43. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11596979

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The Tay-Sachs disease prevention program in Australia: Sydney pilot study. Author(s): Burnett L, Proos AL, Chesher D, Howell VM, Longo L, Tedeschi V, Yang VA, Siafakas N, Turner G. Source: The Medical Journal of Australia. 1995 September 18; 163(6): 298-300. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7565235

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The Tay-Sachs disease screening program in the U.S. as a model for the control of genetic disease: an historical view. Author(s): Edelson PJ. Source: Health Matrix (Cleveland, Ohio : 1991). 1997 Winter; 7(1): 125-33. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10167171

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The Val192Leu mutation in the alpha-subunit of beta-hexosaminidase A is not associated with the B1-variant form of Tay-Sachs disease. Author(s): Hou Y, Vavougios G, Hinek A, Wu KK, Hechtman P, Kaplan F, Mahuran DJ. Source: American Journal of Human Genetics. 1996 July; 59(1): 52-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8659543

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Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease. Author(s): Tomczak J, Grebner EE. Source: Human Mutation. 1994; 4(1): 71-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7951261

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Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease. Author(s): Drucker L, Hemli JA, Navon R. Source: Human Mutation. 1997; 10(6): 451-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9401008

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Ultrastructural alterations of endocrine glands in Tay-Sachs disease. Author(s): Adachi M, Volk BW, Schneck L, Relkin R. Source: American Journal of Clinical Pathology. 1972 May; 57(5): 557-61. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4337190

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Ultrastructural demonstration of neuronal storage in fetal Tay-Sachs disease. Author(s): Cutz E, Lowden JA, Conen PE. Source: Journal of the Neurological Sciences. 1974 February; 21(2): 197-202. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4374514

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Ultrastructural studies of eight cases of fetal Tay-Sachs disease. Author(s): Adachi M, Schneck L, Volk BW. Source: Laboratory Investigation; a Journal of Technical Methods and Pathology. 1974 January; 30(1): 102-12. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4360066

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Understanding Tay-Sachs disease. Recent advances. Author(s): Volk BW. Source: Clinical Pediatrics. 1966 November; 5(11): 653-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5926922

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Unusual thermolability properties of leukocyte beta-hexosaminidase: implications in screening for carriers of Tay-Sachs disease. Author(s): Prence EM, Natowicz MR, Zalewski I. Source: Clinical Chemistry. 1993 September; 39(9): 1811-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8375052

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Use of 4-methylumbelliferyl-6-sulpho-2-acetamido-2-deoxy-beta- D-glucopyranoside for prenatal diagnosis of Tay-Sachs disease using chorionic villi. Author(s): Grebner EE, Wenger DA. Source: Prenatal Diagnosis. 1987 July; 7(6): 419-23. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2958791

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CHAPTER 2. NUTRITION AND TAY-SACHS DISEASE Overview In this chapter, we will show you how to find studies dedicated specifically to nutrition and Tay-Sachs disease.

Finding Nutrition Studies on Tay-Sachs Disease The National Institutes of Health’s Office of Dietary Supplements (ODS) offers a searchable bibliographic database called the IBIDS (International Bibliographic Information on Dietary Supplements; National Institutes of Health, Building 31, Room 1B29, 31 Center Drive, MSC 2086, Bethesda, Maryland 20892-2086, Tel: 301-435-2920, Fax: 301-480-1845, E-mail: [email protected]). The IBIDS contains over 460,000 scientific citations and summaries about dietary supplements and nutrition as well as references to published international, scientific literature on dietary supplements such as vitamins, minerals, and botanicals.7 The IBIDS includes references and citations to both human and animal research studies. As a service of the ODS, access to the IBIDS database is available free of charge at the following Web address: http://ods.od.nih.gov/databases/ibids.html. After entering the search area, you have three choices: (1) IBIDS Consumer Database, (2) Full IBIDS Database, or (3) Peer Reviewed Citations Only. Now that you have selected a database, click on the “Advanced” tab. An advanced search allows you to retrieve up to 100 fully explained references in a comprehensive format. Type “Tay-Sachs disease” (or synonyms) into the search box, and click “Go.” To narrow the search, you can also select the “Title” field.

7

Adapted from http://ods.od.nih.gov. IBIDS is produced by the Office of Dietary Supplements (ODS) at the National Institutes of Health to assist the public, healthcare providers, educators, and researchers in locating credible, scientific information on dietary supplements. IBIDS was developed and will be maintained through an interagency partnership with the Food and Nutrition Information Center of the National Agricultural Library, U.S. Department of Agriculture.

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The following information is typical of that found when using the “Full IBIDS Database” to search for “Tay-Sachs disease” (or a synonym): •

Active arginine residues in beta-hexosaminidase. Identification through studies of the B1 variant of Tay-Sachs disease. Author(s): Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada. Source: Brown, C A Mahuran, D J J-Biol-Chem. 1991 August 25; 266(24): 15855-62 00219258

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Detection of Tay-Sachs disease carriers among individuals with thermolabile hexosaminidase B. Author(s): Genetic Institute, Sheba Medical Center, Tel-Hashomer, Israel. Source: Peleg, L Goldman, B Eur-J-Clin-Chem-Clin-Biochem. 1994 February; 32(2): 65-9 0939-4974

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First trimester prenatal diagnosis of Tay-Sachs disease using the sulfated synthetic substrate for hexosaminidase A. Author(s): Division of Clinical Genetics, Hospital for Sick Children. Source: Callahan, J W Archibald, A Skomorowski, M A Shuman, C Clarke, J T ClinBiochem. 1990 December; 23(6): 533-6 0009-9120

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Neuropsychiatric aspects of adult-onset Tay-Sachs disease: two case reports with several new findings. Author(s): Department of Psychiatry, Columbia University College of Physicians and Surgeons, Columbia-Presbyterian Medical Center, New York, New York 10034. Source: Hurowitz, G I Silver, J M Brin, M F Williams, D T Johnson, W G JNeuropsychiatry-Clin-Neurosci. 1993 Winter; 5(1): 30-6 0895-0172

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Tay-Sachs disease heterozygote detection: use of a centrifugal analyser for automation of hexosaminidase assays with two different artificial substrates. Author(s): Division of Medical and Molecular Genetics, United Medical School of Guy's Hospital, London. Source: Landels, E C Ellis, I H Bobrow, M Fensom, A H J-Med-Genet. 1991 February; 28(2): 101-9 0022-2593

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The mutation mechanism causing juvenile-onset Tay-Sachs disease among Lebanese. Author(s): deBelle Laboratory for Biochemical Genetics, McGill University-Montreal Children's Hospital Research Institute, Quebec, Canada. Source: Hechtman, P Boulay, B Bayleran, J Andermann, E Clin-Genet. 1989 May; 35(5): 364-75 0009-9163

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Use of 4-methylumbelliferyl-6-sulpho-2-acetamido-2-deoxy-beta- D-glucopyranoside for prenatal diagnosis of Tay-Sachs disease using chorionic villi. Author(s): Department of Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107. Source: Grebner, E E Wenger, D A Prenat-Diagn. 1987 July; 7(6): 419-23 0197-3851

Federal Resources on Nutrition In addition to the IBIDS, the United States Department of Health and Human Services (HHS) and the United States Department of Agriculture (USDA) provide many sources of information on general nutrition and health. Recommended resources include: •

healthfinder®, HHS’s gateway to health information, including diet and nutrition: http://www.healthfinder.gov/scripts/SearchContext.asp?topic=238&page=0

Nutrition

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The United States Department of Agriculture’s Web site dedicated to nutrition information: www.nutrition.gov

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The Food and Drug Administration’s Web site for federal food safety information: www.foodsafety.gov

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The National Action Plan on Overweight and Obesity sponsored by the United States Surgeon General: http://www.surgeongeneral.gov/topics/obesity/

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The Center for Food Safety and Applied Nutrition has an Internet site sponsored by the Food and Drug Administration and the Department of Health and Human Services: http://vm.cfsan.fda.gov/

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Center for Nutrition Policy and Promotion sponsored by the United States Department of Agriculture: http://www.usda.gov/cnpp/

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Food and Nutrition Information Center, National Agricultural Library sponsored by the United States Department of Agriculture: http://www.nal.usda.gov/fnic/

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Food and Nutrition Service sponsored by the United States Department of Agriculture: http://www.fns.usda.gov/fns/

Additional Web Resources A number of additional Web sites offer encyclopedic information covering food and nutrition. The following is a representative sample: •

AOL: http://search.aol.com/cat.adp?id=174&layer=&from=subcats

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Family Village: http://www.familyvillage.wisc.edu/med_nutrition.html

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Google: http://directory.google.com/Top/Health/Nutrition/

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Healthnotes: http://www.healthnotes.com/

•

Open Directory Project: http://dmoz.org/Health/Nutrition/

•

Yahoo.com: http://dir.yahoo.com/Health/Nutrition/

•

WebMDHealth: http://my.webmd.com/nutrition

•

WholeHealthMD.com: http://www.wholehealthmd.com/reflib/0,1529,00.html

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CHAPTER 3. ALTERNATIVE MEDICINE AND TAY-SACHS DISEASE Overview In this chapter, we will begin by introducing you to official information sources on complementary and alternative medicine (CAM) relating to Tay-Sachs disease. At the conclusion of this chapter, we will provide additional sources.

National Center for Complementary and Alternative Medicine The National Center for Complementary and Alternative Medicine (NCCAM) of the National Institutes of Health (http://nccam.nih.gov/) has created a link to the National Library of Medicine’s databases to facilitate research for articles that specifically relate to Tay-Sachs disease and complementary medicine. To search the database, go to the following Web site: http://www.nlm.nih.gov/nccam/camonpubmed.html. Select “CAM on PubMed.” Enter “Tay-Sachs disease” (or synonyms) into the search box. Click “Go.” The following references provide information on particular aspects of complementary and alternative medicine that are related to Tay-Sachs disease: •

A group for parents of children with fatal genetic illnesses. Author(s): Mack SA, Berman LC. Source: The American Journal of Orthopsychiatry. 1988 July; 58(3): 397-404. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3407730

•

A religious response to Tay-Sachs disease screening and prevention. Author(s): Jacobs SB. Source: Prog Clin Biol Res. 1977; 18: 75-80. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=601096

•

Letter: Amniocentesis in Tay-Sachs disease. Author(s): Rosner F.

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Source: Jama : the Journal of the American Medical Association. 1974 May 13; 228(7): 829. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4406299 •

Letter: Screening for carriers of Tay-Sachs disease. Author(s): Jackson LG, Glazerman LR, Faust HS, Nimoityn P. Source: Jama : the Journal of the American Medical Association. 1974 August 5; 229(6): 640. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4408282

•

Letter: Screening for Tay-Sachs disease. Author(s): Evans PR, Ellis RB. Source: Lancet. 1974 March 30; 1(7857): 575-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4132029

•

Letter: Screening for Tay-Sachs disease. Author(s): Rosner F. Source: Lancet. 1974 March 2; 1(7853): 359. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4131207

•

Leukocyte sonicates as a source for both enzyme assay and DNA amplification for mutational analysis of certain lysosomal disorders. Author(s): Louie E, Rafi MA, Wenger DA. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1991 May 31; 199(1): 7-15. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1682071

•

Matchmaking scheme solves Tay-Sachs problem. Author(s): Merz B. Source: Jama : the Journal of the American Medical Association. 1987 November 20; 258(19): 2636, 2639. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3669232

•

Moral dilemmas that are acute within a religious tradition: a Jewish perspective; a Catholic perspective. Author(s): Franck I, McCormick RA. Source: Hosp Pract. 1983 July; 18(7): 192, 194, 196-198. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11658451

•

Prenatal screening in Jewish law. Author(s): Brown J.

Alternative Medicine 55

Source: Journal of Medical Ethics. 1990 June; 16(2): 75-80. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2195172 •

Prolonging dying is the same as prolonging living--one more response to Long. Author(s): Kuhse H, Singer P. Source: Journal of Medical Ethics. 1991 December; 17(4): 205-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1787522

•

Screening for carriers of Tay-Sachs disease in the ultraorthodox Ashkenazi Jewish community in Israel. Author(s): Broide E, Zeigler M, Eckstein J, Bach G. Source: American Journal of Medical Genetics. 1993 August 15; 47(2): 213-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8213907

•

Screening Jews and genes: a consideration of the ethics of genetic screening within the Jewish community: challenges and responses. Author(s): Levin M. Source: Genetic Testing. 1999; 3(2): 207-13. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10464669

•

Tay-Sachs disease: knowledge and attitudes of the rabbinical community. Author(s): Abuelo DN, Rosenstein J, Sheff M. Source: R I Med J. 1985 May; 68(5): 225-6.

Additional Web Resources A number of additional Web sites offer encyclopedic information covering CAM and related topics. The following is a representative sample: •

Alternative Medicine Foundation, Inc.: http://www.herbmed.org/

•


•

Chinese Medicine: http://www.newcenturynutrition.com/

•

drkoop.com: http://www.drkoop.com/InteractiveMedicine/IndexC.html

•

Family Village: http://www.familyvillage.wisc.edu/med_altn.htm

•

Google: http://directory.google.com/Top/Health/Alternative/

•

Healthnotes: http://www.healthnotes.com/

•

MedWebPlus: http://medwebplus.com/subject/Alternative_and_Complementary_Medicine

•

Open Directory Project: http://dmoz.org/Health/Alternative/

•

HealthGate: http://www.tnp.com/

•

WebMDHealth: http://my.webmd.com/drugs_and_herbs

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•

WholeHealthMD.com: http://www.wholehealthmd.com/reflib/0,1529,00.html

•

Yahoo.com: http://dir.yahoo.com/Health/Alternative_Medicine/

General References A good place to find general background information on CAM is the National Library of Medicine. It has prepared within the MEDLINEplus system an information topic page dedicated to complementary and alternative medicine. To access this page, go to the MEDLINEplus site at http://www.nlm.nih.gov/medlineplus/alternativemedicine.html. This Web site provides a general overview of various topics and can lead to a number of general sources.

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CHAPTER 4. DISSERTATIONS ON TAY-SACHS DISEASE Overview In this chapter, we will give you a bibliography on recent dissertations relating to Tay-Sachs disease. We will also provide you with information on how to use the Internet to stay current on dissertations. IMPORTANT NOTE: When following the search strategy described below, you may discover non-medical dissertations that use the generic term “Tay-Sachs disease” (or a synonym) in their titles. To accurately reflect the results that you might find while conducting research on Tay-Sachs disease, we have not necessarily excluded non-medical dissertations in this bibliography.

Dissertations on Tay-Sachs Disease ProQuest Digital Dissertations, the largest archive of academic dissertations available, is located at the following Web address: http://wwwlib.umi.com/dissertations. From this archive, we have compiled the following list covering dissertations devoted to Tay-Sachs disease. You will see that the information provided includes the dissertation’s title, its author, and the institution with which the author is associated. The following covers recent dissertations found when using this search procedure: •

THE DETERMINANTS OF MOTIVATION FOR VOLUNTARY PARTICIPATION IN TAY-SACHS DISEASE PREVENTION PROGRAMS (GENETICS, JUDAISM, PUBLIC POLICY, ORGANIZATIONAL BEHAVIOR) by COHEN, DEBORAH ELLEN, PHD from Brandeis U., the F. Heller Grad. Sch. for Adv. Stud. in Soc. Wel., 1984, 274 pages http://wwwlib.umi.com/dissertations/fullcit/8422725

Keeping Current Ask the medical librarian at your library if it has full and unlimited access to the ProQuest Digital Dissertations database. From the library, you should be able to do more complete searches via http://wwwlib.umi.com/dissertations.

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CHAPTER 5. BOOKS ON TAY-SACHS DISEASE Overview This chapter provides bibliographic book references relating to Tay-Sachs disease. In addition to online booksellers such as www.amazon.com and www.bn.com, excellent sources for book titles on Tay-Sachs disease include the Combined Health Information Database and the National Library of Medicine. Your local medical library also may have these titles available for loan.

Book Summaries: Federal Agencies The Combined Health Information Database collects various book abstracts from a variety of healthcare institutions and federal agencies. To access these summaries, go directly to the following hyperlink: http://chid.nih.gov/detail/detail.html. You will need to use the “Detailed Search” option. To find book summaries, use the drop boxes at the bottom of the search page where “You may refine your search by.” Select the dates and language you prefer. For the format option, select “Monograph/Book.” Now type “Tay-Sachs disease” (or synonyms) into the “For these words:” box. You should check back periodically with this database which is updated every three months. The following is a typical result when searching for books on Tay-Sachs disease: •

A-Z Reference Book of Syndromes and Inherited Disorders Source: London, England: Chapman and Hall. 1996. 394 p. Contact: Available from Singular Publishing Group, Inc. 401 West 'A' Street, Suite 325, San Diego, CA 92101-7904. (800) 521-8545 or (619) 238-6777. Fax (800) 774-8398 or (619) 238-6789. E-mail: [email protected]. Website: www.singpub.com. PRICE: $42.95 plus shipping and handling. ISBN: 0412641208. Summary: This book provides a practical reference for both caregivers and those with a syndrome or inherited disorder. The author describes the disorders and problems of both children and adults, and considers the day-to-day management of conditions. The book is written in nontechnical language while still providing enough detail for medical, nursing, and midwifery professionals. The syndromes and disorders are listed alphabetically by name. Those specifically related to deafness, communication, and

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speech and language include achondroplasia, Alport's syndrome, Apert's syndrome, Asperger's syndrome, Batten's disease, Beckwith-Wiedeman syndrome, CHARGE syndrome, Cockayne syndrome, Cornelia de Lange syndrome, Crouzon's syndrome, Down's syndrome, Duchenne muscular dystrophy, Edward's syndrome, Ehlers-Danlos syndrome, Fabry disease, fetal alcohol syndrome, Fragile X syndrome, Gilles de la Tourette syndrome, Goldenhar syndrome, Hunter's syndrome, Hurler's syndrome, Klinefelter's syndrome, LEOPARD syndrome, Moebius syndrome, Morquio's syndrome, neurofibromatosis, Niemann-Pick disease, Noonan's syndrome, osteogenesis imperfecta, Pierre-Robin syndrome, Prader-Willi syndrome, Rett's syndrome, Reye's syndrome, San Filippo syndrome, Smith-Magenis syndrome, Stickler syndrome, Tay-Sachs disease, Treacher Collins syndrome, Turner's syndrome, Usher's syndrome, Waardenburg's syndrome, and William's syndrome. For each syndrome, the author lists alternative names, incidence, causation (etiology), characteristics or symptoms, management implications (treatment options), prognosis, and self-help groups to contact. Most groups listed are in England. The book concludes with three appendices that provide a discussion of genetics, a listing of regional genetics centers (in England), and a glossary of terms. A subject index is also included. (AA-M).

Book Summaries: Online Booksellers Commercial Internet-based booksellers, such as Amazon.com and Barnes&Noble.com, offer summaries which have been supplied by each title’s publisher. Some summaries also include customer reviews. Your local bookseller may have access to in-house and commercial databases that index all published books (e.g. Books in Print). IMPORTANT NOTE: Online booksellers typically produce search results for medical and non-medical books. When searching for “Tay-Sachs disease” at online booksellers’ Web sites, you may discover non-medical books that use the generic term “Tay-Sachs disease” (or a synonym) in their titles. The following is indicative of the results you might find when searching for “Tay-Sachs disease” (sorted alphabetically by title; follow the hyperlink to view more details at Amazon.com): •

KABACK TAY-SACHS DISEASE - SCREENING AND PREVENTION by MM KABACK; ISBN: 0471564354; http://www.amazon.com/exec/obidos/ASIN/0471564354/icongroupinterna

•

Tay-Sachs Disease; ISBN: 0895684209; http://www.amazon.com/exec/obidos/ASIN/0895684209/icongroupinterna

•

Tay-Sachs Disease (Advances in Genetics, Volume 44) by Robert Desnick (Author), et al; ISBN: 0120176440; http://www.amazon.com/exec/obidos/ASIN/0120176440/icongroupinterna

•

The Official Parent's Sourcebook on Tay-Sachs Disease: A Revised and Updated Directory for the Internet Age by Icon Health Publications; ISBN: 059783024X; http://www.amazon.com/exec/obidos/ASIN/059783024X/icongroupinterna

Chapters on Tay-Sachs Disease In order to find chapters that specifically relate to Tay-Sachs disease, an excellent source of abstracts is the Combined Health Information Database. You will need to limit your search to book chapters and Tay-Sachs disease using the “Detailed Search” option. Go to the

Books

61

following hyperlink: http://chid.nih.gov/detail/detail.html. To find book chapters, use the drop boxes at the bottom of the search page where “You may refine your search by.” Select the dates and language you prefer, and the format option “Book Chapter.” Type “Tay-Sachs disease” (or synonyms) into the “For these words:” box. The following is a typical result when searching for book chapters on Tay-Sachs disease: •

Genetic Hearing Loss Associated with Endocrine and Metabolic Disorders Source: in Gorlin, R.J.; Toriello, H.V.; Cohen, M.M., Jr., eds. Hereditary Hearing Loss and Its Syndromes. New York, NY: Oxford University Press. 1995. p. 318-354. Contact: Available from Oxford University Press. 200 Madison Avenue, New York, NY 10016. (800) 334-4249 or (212) 679-7300. PRICE: $195.00 plus shipping and handling. ISBN: 0195065522. Summary: This chapter, from a text on hereditary hearing loss and its syndromes, discusses genetic hearing loss associated with endocrine and metabolic disorders. The disorders discussed are grouped as follows: mucopolysaccharidoses, oligosaccharidoses, gangliosidoses, adrenoleukodystrophies, and a group made up of several syndromes of diabetes mellitus, thyroid disorders, parathyroid disorders, gonadal disorders, and various other conditions. Syndromes discussed include Hurler, Scheie, Hunter, Sanfilippo, Sly, sialidosis, Fabry disease, Tay-Sachs disease, Krabbe disease, NiemannPick type C disease, diabetes, Pendred syndrome, Yumita syndrome, Winkelmann syndrome, Perrault syndrome, and Rosenberg syndrome. For each condition discussed, the author covers the clinical findings, the auditory system, musculoskeletal involvement, central nervous system involvement, vestibular system involvement, radiologic findings, pathology, heredity, diagnosis, and prognosis. References are included in each section. 18 figures. 3 tables. 483 references.

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CHAPTER 6. PERIODICALS AND NEWS ON TAY-SACHS DISEASE Overview In this chapter, we suggest a number of news sources and present various periodicals that cover Tay-Sachs disease.

News Services and Press Releases One of the simplest ways of tracking press releases on Tay-Sachs disease is to search the news wires. In the following sample of sources, we will briefly describe how to access each service. These services only post recent news intended for public viewing. PR Newswire To access the PR Newswire archive, simply go to http://www.prnewswire.com/. Select your country. Type “Tay-Sachs disease” (or synonyms) into the search box. You will automatically receive information on relevant news releases posted within the last 30 days. The search results are shown by order of relevance. Reuters Health The Reuters’ Medical News and Health eLine databases can be very useful in exploring news archives relating to Tay-Sachs disease. While some of the listed articles are free to view, others are available for purchase for a nominal fee. To access this archive, go to http://www.reutershealth.com/en/index.html and search by “Tay-Sachs disease” (or synonyms). The following was recently listed in this archive for Tay-Sachs disease: •

Potential Treatment For Tay-Sachs Disease Described Source: Reuters Medical News Date: April 18, 1997

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The NIH Within MEDLINEplus, the NIH has made an agreement with the New York Times Syndicate, the AP News Service, and Reuters to deliver news that can be browsed by the public. Search news releases at http://www.nlm.nih.gov/medlineplus/alphanews_a.html. MEDLINEplus allows you to browse across an alphabetical index. Or you can search by date at the following Web page: http://www.nlm.nih.gov/medlineplus/newsbydate.html. Often, news items are indexed by MEDLINEplus within its search engine. Business Wire Business Wire is similar to PR Newswire. To access this archive, simply go to http://www.businesswire.com/. You can scan the news by industry category or company name. Market Wire Market Wire is more focused on technology than the other wires. To browse the latest press releases by topic, such as alternative medicine, biotechnology, fitness, healthcare, legal, nutrition, and pharmaceuticals, access Market Wire’s Medical/Health channel at http://www.marketwire.com/mw/release_index?channel=MedicalHealth. Or simply go to Market Wire’s home page at http://www.marketwire.com/mw/home, type “Tay-Sachs disease” (or synonyms) into the search box, and click on “Search News.” As this service is technology oriented, you may wish to use it when searching for press releases covering diagnostic procedures or tests. Search Engines Medical news is also available in the news sections of commercial Internet search engines. See the health news page at Yahoo (http://dir.yahoo.com/Health/News_and_Media/), or you can use this Web site’s general news search page at http://news.yahoo.com/. Type in “Tay-Sachs disease” (or synonyms). If you know the name of a company that is relevant to Tay-Sachs disease, you can go to any stock trading Web site (such as http://www.etrade.com/) and search for the company name there. News items across various news sources are reported on indicated hyperlinks. Google offers a similar service at http://news.google.com/. BBC Covering news from a more European perspective, the British Broadcasting Corporation (BBC) allows the public free access to their news archive located at http://www.bbc.co.uk/. Search by “Tay-Sachs disease” (or synonyms).

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65

Academic Periodicals covering Tay-Sachs Disease Numerous periodicals are currently indexed within the National Library of Medicine’s PubMed database that are known to publish articles relating to Tay-Sachs disease. In addition to these sources, you can search for articles covering Tay-Sachs disease that have been published by any of the periodicals listed in previous chapters. To find the latest studies published, go to http://www.ncbi.nlm.nih.gov/pubmed, type the name of the periodical into the search box, and click “Go.” If you want complete details about the historical contents of a journal, you can also visit the following Web site: http://www.ncbi.nlm.nih.gov/entrez/jrbrowser.cgi. Here, type in the name of the journal or its abbreviation, and you will receive an index of published articles. At http://locatorplus.gov/, you can retrieve more indexing information on medical periodicals (e.g. the name of the publisher). Select the button “Search LOCATORplus.” Then type in the name of the journal and select the advanced search option “Journal Title Search.”

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APPENDICES

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APPENDIX A. PHYSICIAN RESOURCES Overview In this chapter, we focus on databases and Internet-based guidelines and information resources created or written for a professional audience.

NIH Guidelines Commonly referred to as “clinical” or “professional” guidelines, the National Institutes of Health publish physician guidelines for the most common diseases. Publications are available at the following by relevant Institute8: •

Office of the Director (OD); guidelines consolidated across agencies available at http://www.nih.gov/health/consumer/conkey.htm

•

National Institute of General Medical Sciences (NIGMS); fact sheets available at http://www.nigms.nih.gov/news/facts/

•

National Library of Medicine (NLM); extensive encyclopedia (A.D.A.M., Inc.) with guidelines: http://www.nlm.nih.gov/medlineplus/healthtopics.html

•

National Cancer Institute (NCI); guidelines available at http://www.cancer.gov/cancerinfo/list.aspx?viewid=5f35036e-5497-4d86-8c2c714a9f7c8d25

•

National Eye Institute (NEI); guidelines available at http://www.nei.nih.gov/order/index.htm

•

National Heart, Lung, and Blood Institute (NHLBI); guidelines available at http://www.nhlbi.nih.gov/guidelines/index.htm

•

National Human Genome Research Institute (NHGRI); research available at http://www.genome.gov/page.cfm?pageID=10000375

•

National Institute on Aging (NIA); guidelines available at http://www.nia.nih.gov/health/

8

These publications are typically written by one or more of the various NIH Institutes.

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•

National Institute on Alcohol Abuse and Alcoholism (NIAAA); guidelines available at http://www.niaaa.nih.gov/publications/publications.htm

•

National Institute of Allergy and Infectious Diseases (NIAID); guidelines available at http://www.niaid.nih.gov/publications/

•

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS); fact sheets and guidelines available at http://www.niams.nih.gov/hi/index.htm

•

National Institute of Child Health and Human Development (NICHD); guidelines available at http://www.nichd.nih.gov/publications/pubskey.cfm

•

National Institute on Deafness and Other Communication Disorders (NIDCD); fact sheets and guidelines at http://www.nidcd.nih.gov/health/

•

National Institute of Dental and Craniofacial Research (NIDCR); guidelines available at http://www.nidr.nih.gov/health/

•

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); guidelines available at http://www.niddk.nih.gov/health/health.htm

•

National Institute on Drug Abuse (NIDA); guidelines available at http://www.nida.nih.gov/DrugAbuse.html

•

National Institute of Environmental Health Sciences (NIEHS); environmental health information available at http://www.niehs.nih.gov/external/facts.htm

•

National Institute of Mental Health (NIMH); guidelines available at http://www.nimh.nih.gov/practitioners/index.cfm

•

National Institute of Neurological Disorders and Stroke (NINDS); neurological disorder information pages available at http://www.ninds.nih.gov/health_and_medical/disorder_index.htm

•

National Institute of Nursing Research (NINR); publications on selected illnesses at http://www.nih.gov/ninr/news-info/publications.html

•

National Institute of Biomedical Imaging and Bioengineering; general information at http://grants.nih.gov/grants/becon/becon_info.htm

•

Center for Information Technology (CIT); referrals to other agencies based on keyword searches available at http://kb.nih.gov/www_query_main.asp

•

National Center for Complementary and Alternative Medicine (NCCAM); health information available at http://nccam.nih.gov/health/

•

National Center for Research Resources (NCRR); various information directories available at http://www.ncrr.nih.gov/publications.asp

•

Office of Rare Diseases; various fact sheets available at http://rarediseases.info.nih.gov/html/resources/rep_pubs.html

•

Centers for Disease Control and Prevention; various fact sheets on infectious diseases available at http://www.cdc.gov/publications.htm

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NIH Databases In addition to the various Institutes of Health that publish professional guidelines, the NIH has designed a number of databases for professionals.9 Physician-oriented resources provide a wide variety of information related to the biomedical and health sciences, both past and present. The format of these resources varies. Searchable databases, bibliographic citations, full-text articles (when available), archival collections, and images are all available. The following are referenced by the National Library of Medicine:10 •

Bioethics: Access to published literature on the ethical, legal, and public policy issues surrounding healthcare and biomedical research. This information is provided in conjunction with the Kennedy Institute of Ethics located at Georgetown University, Washington, D.C.: http://www.nlm.nih.gov/databases/databases_bioethics.html

•

HIV/AIDS Resources: Describes various links and databases dedicated to HIV/AIDS research: http://www.nlm.nih.gov/pubs/factsheets/aidsinfs.html

•

NLM Online Exhibitions: Describes “Exhibitions in the History of Medicine”: http://www.nlm.nih.gov/exhibition/exhibition.html. Additional resources for historical scholarship in medicine: http://www.nlm.nih.gov/hmd/hmd.html

•

Biotechnology Information: Access to public databases. The National Center for Biotechnology Information conducts research in computational biology, develops software tools for analyzing genome data, and disseminates biomedical information for the better understanding of molecular processes affecting human health and disease: http://www.ncbi.nlm.nih.gov/

•

Population Information: The National Library of Medicine provides access to worldwide coverage of population, family planning, and related health issues, including family planning technology and programs, fertility, and population law and policy: http://www.nlm.nih.gov/databases/databases_population.html

•

Cancer Information: Access to cancer-oriented databases: http://www.nlm.nih.gov/databases/databases_cancer.html

•

Profiles in Science: Offering the archival collections of prominent twentieth-century biomedical scientists to the public through modern digital technology: http://www.profiles.nlm.nih.gov/

•

Chemical Information: Provides links to various chemical databases and references: http://sis.nlm.nih.gov/Chem/ChemMain.html

•

Clinical Alerts: Reports the release of findings from the NIH-funded clinical trials where such release could significantly affect morbidity and mortality: http://www.nlm.nih.gov/databases/alerts/clinical_alerts.html

•

Space Life Sciences: Provides links and information to space-based research (including NASA): http://www.nlm.nih.gov/databases/databases_space.html

•

MEDLINE: Bibliographic database covering the fields of medicine, nursing, dentistry, veterinary medicine, the healthcare system, and the pre-clinical sciences: http://www.nlm.nih.gov/databases/databases_medline.html

9

Remember, for the general public, the National Library of Medicine recommends the databases referenced in MEDLINEplus (http://medlineplus.gov/ or http://www.nlm.nih.gov/medlineplus/databases.html). 10 See http://www.nlm.nih.gov/databases/databases.html.

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•

Toxicology and Environmental Health Information (TOXNET): Databases covering toxicology and environmental health: http://sis.nlm.nih.gov/Tox/ToxMain.html

•

Visible Human Interface: Anatomically detailed, three-dimensional representations of normal male and female human bodies: http://www.nlm.nih.gov/research/visible/visible_human.html

The NLM Gateway11 The NLM (National Library of Medicine) Gateway is a Web-based system that lets users search simultaneously in multiple retrieval systems at the U.S. National Library of Medicine (NLM). It allows users of NLM services to initiate searches from one Web interface, providing one-stop searching for many of NLM’s information resources or databases.12 To use the NLM Gateway, simply go to the search site at http://gateway.nlm.nih.gov/gw/Cmd. Type “Tay-Sachs disease” (or synonyms) into the search box and click “Search.” The results will be presented in a tabular form, indicating the number of references in each database category. Results Summary Category Journal Articles Books / Periodicals / Audio Visual Consumer Health Meeting Abstracts Other Collections Total

Items Found 1164 76 367 0 25 1632

HSTAT13 HSTAT is a free, Web-based resource that provides access to full-text documents used in healthcare decision-making.14 These documents include clinical practice guidelines, quickreference guides for clinicians, consumer health brochures, evidence reports and technology assessments from the Agency for Healthcare Research and Quality (AHRQ), as well as AHRQ’s Put Prevention Into Practice.15 Simply search by “Tay-Sachs disease” (or synonyms) at the following Web site: http://text.nlm.nih.gov.

11

Adapted from NLM: http://gateway.nlm.nih.gov/gw/Cmd?Overview.x.

12

The NLM Gateway is currently being developed by the Lister Hill National Center for Biomedical Communications (LHNCBC) at the National Library of Medicine (NLM) of the National Institutes of Health (NIH). 13 Adapted from HSTAT: http://www.nlm.nih.gov/pubs/factsheets/hstat.html. 14 15

The HSTAT URL is http://hstat.nlm.nih.gov/.

Other important documents in HSTAT include: the National Institutes of Health (NIH) Consensus Conference Reports and Technology Assessment Reports; the HIV/AIDS Treatment Information Service (ATIS) resource documents; the Substance Abuse and Mental Health Services Administration's Center for Substance Abuse Treatment (SAMHSA/CSAT) Treatment Improvement Protocols (TIP) and Center for Substance Abuse Prevention (SAMHSA/CSAP) Prevention Enhancement Protocols System (PEPS); the Public Health Service (PHS) Preventive Services Task Force's Guide to Clinical Preventive Services; the independent, nonfederal Task Force on Community Services’ Guide to Community Preventive Services; and the Health Technology Advisory Committee (HTAC) of the Minnesota Health Care Commission (MHCC) health technology evaluations.

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Coffee Break: Tutorials for Biologists16 Coffee Break is a general healthcare site that takes a scientific view of the news and covers recent breakthroughs in biology that may one day assist physicians in developing treatments. Here you will find a collection of short reports on recent biological discoveries. Each report incorporates interactive tutorials that demonstrate how bioinformatics tools are used as a part of the research process. Currently, all Coffee Breaks are written by NCBI staff.17 Each report is about 400 words and is usually based on a discovery reported in one or more articles from recently published, peer-reviewed literature.18 This site has new articles every few weeks, so it can be considered an online magazine of sorts. It is intended for general background information. You can access the Coffee Break Web site at the following hyperlink: http://www.ncbi.nlm.nih.gov/Coffeebreak/.

Other Commercial Databases In addition to resources maintained by official agencies, other databases exist that are commercial ventures addressing medical professionals. Here are some examples that may interest you: •

CliniWeb International: Index and table of contents to selected clinical information on the Internet; see http://www.ohsu.edu/cliniweb/.

•

Medical World Search: Searches full text from thousands of selected medical sites on the Internet; see http://www.mwsearch.com/.

The Genome Project and Tay-Sachs Disease In the following section, we will discuss databases and references which relate to the Genome Project and Tay-Sachs disease. Online Mendelian Inheritance in Man (OMIM) The Online Mendelian Inheritance in Man (OMIM) database is a catalog of human genes and genetic disorders authored and edited by Dr. Victor A. McKusick and his colleagues at Johns Hopkins and elsewhere. OMIM was developed for the World Wide Web by the National Center for Biotechnology Information (NCBI).19 The database contains textual information, pictures, and reference information. It also contains copious links to NCBI’s Entrez database of MEDLINE articles and sequence information. 16 Adapted 17

from http://www.ncbi.nlm.nih.gov/Coffeebreak/Archive/FAQ.html.

The figure that accompanies each article is frequently supplied by an expert external to NCBI, in which case the source of the figure is cited. The result is an interactive tutorial that tells a biological story. 18 After a brief introduction that sets the work described into a broader context, the report focuses on how a molecular understanding can provide explanations of observed biology and lead to therapies for diseases. Each vignette is accompanied by a figure and hypertext links that lead to a series of pages that interactively show how NCBI tools and resources are used in the research process. 19 Adapted from http://www.ncbi.nlm.nih.gov/. Established in 1988 as a national resource for molecular biology information, NCBI creates public databases, conducts research in computational biology, develops software tools for analyzing genome data, and disseminates biomedical information--all for the better understanding of molecular processes affecting human health and disease.

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To search the database, go to http://www.ncbi.nlm.nih.gov/Omim/searchomim.html. Type “Tay-Sachs disease” (or synonyms) into the search box, and click “Submit Search.” If too many results appear, you can narrow the search by adding the word “clinical.” Each report will have additional links to related research and databases. In particular, the option “Database Links” will search across technical databases that offer an abundance of information. The following is an example of the results you can obtain from the OMIM for Tay-Sachs disease: •

Tay-Sachs Disease Web site: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=272800

•

Tay-Sachs Disease, AB Variant Web site: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=272750 Genes and Disease (NCBI - Map)

The Genes and Disease database is produced by the National Center for Biotechnology Information of the National Library of Medicine at the National Institutes of Health. This Web site categorizes each disorder by system of the body. Go to http://www.ncbi.nlm.nih.gov/disease/, and browse the system pages to have a full view of important conditions linked to human genes. Since this site is regularly updated, you may wish to revisit it from time to time. The following systems and associated disorders are addressed: •

Cancer: Uncontrolled cell division. Examples: Breast and ovarian cancer, Burkitt lymphoma, chronic myeloid leukemia, colon cancer, lung cancer, malignant melanoma, multiple endocrine neoplasia, neurofibromatosis, p53 tumor suppressor, pancreatic cancer, prostate cancer, Ras oncogene, RB: retinoblastoma, von Hippel-Lindau syndrome. Web site: http://www.ncbi.nlm.nih.gov/disease/Cancer.html

•

Immune System: Fights invaders. Examples: Asthma, autoimmune polyglandular syndrome, Crohn’s disease, DiGeorge syndrome, familial Mediterranean fever, immunodeficiency with Hyper-IgM, severe combined immunodeficiency. Web site: http://www.ncbi.nlm.nih.gov/disease/Immune.html

•

Metabolism: Food and energy. Examples: Adreno-leukodystrophy, atherosclerosis, Best disease, Gaucher disease, glucose galactose malabsorption, gyrate atrophy, juvenile-onset diabetes, obesity, paroxysmal nocturnal hemoglobinuria, phenylketonuria, Refsum disease, Tangier disease, Tay-Sachs disease. Web site: http://www.ncbi.nlm.nih.gov/disease/Metabolism.html

•

Muscle and Bone: Movement and growth. Examples: Duchenne muscular dystrophy, Ellis-van Creveld syndrome, Marfan syndrome, myotonic dystrophy, spinal muscular atrophy. Web site: http://www.ncbi.nlm.nih.gov/disease/Muscle.html

•

Nervous System: Mind and body. Examples: Alzheimer disease, amyotrophic lateral sclerosis, Angelman syndrome, Charcot-Marie-Tooth disease, epilepsy, essential tremor, fragile X syndrome, Friedreich’s ataxia, Huntington disease, Niemann-Pick disease, Parkinson disease,

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Prader-Willi syndrome, Rett syndrome, spinocerebellar atrophy, Williams syndrome. Web site: http://www.ncbi.nlm.nih.gov/disease/Brain.html •

Signals: Cellular messages. Examples: Ataxia telangiectasia, Cockayne syndrome, glaucoma, male-patterned baldness, SRY: sex determination, tuberous sclerosis, Waardenburg syndrome, Werner syndrome. Web site: http://www.ncbi.nlm.nih.gov/disease/Signals.html

•

Transporters: Pumps and channels. Examples: Cystic fibrosis, deafness, diastrophic dysplasia, Hemophilia A, long-QT syndrome, Menkes syndrome, Pendred syndrome, polycystic kidney disease, sickle cell anemia, Wilson’s disease, Zellweger syndrome. Web site: http://www.ncbi.nlm.nih.gov/disease/Transporters.html Entrez

Entrez is a search and retrieval system that integrates several linked databases at the National Center for Biotechnology Information (NCBI). These databases include nucleotide sequences, protein sequences, macromolecular structures, whole genomes, and MEDLINE through PubMed. Entrez provides access to the following databases: •

3D Domains: Domains from Entrez Structure, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=geo

•

Books: Online books, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=books

•

Genome: Complete genome assemblies, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Genome

•

NCBI’s Protein Sequence Information Survey Results: Web site: http://www.ncbi.nlm.nih.gov/About/proteinsurvey/

•

Nucleotide Sequence Database (Genbank): Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Nucleotide

•

OMIM: Online Mendelian Inheritance in Man, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM

•

PopSet: Population study data sets, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Popset

•

ProbeSet: Gene Expression Omnibus (GEO), Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=geo

•

Protein Sequence Database: Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Protein

•

PubMed: Biomedical literature (PubMed), Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed

•

Structure: Three-dimensional macromolecular structures, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Structure

•

Taxonomy: Organisms in GenBank, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Taxonomy

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To access the Entrez system at the National Center for Biotechnology Information, go to http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=genome, and then select the database that you would like to search. The databases available are listed in the drop box next to “Search.” Enter “Tay-Sachs disease” (or synonyms) into the search box and click “Go.” Jablonski’s Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes Database20 This online resource has been developed to facilitate the identification and differentiation of syndromic entities. Special attention is given to the type of information that is usually limited or completely omitted in existing reference sources due to space limitations of the printed form. At http://www.nlm.nih.gov/mesh/jablonski/syndrome_toc/toc_a.html, you can search across syndromes using an alphabetical index. Search by keywords at http://www.nlm.nih.gov/mesh/jablonski/syndrome_db.html. The Genome Database21 Established at Johns Hopkins University in Baltimore, Maryland in 1990, the Genome Database (GDB) is the official central repository for genomic mapping data resulting from the Human Genome Initiative. In the spring of 1999, the Bioinformatics Supercomputing Centre (BiSC) at the Hospital for Sick Children in Toronto, Ontario assumed the management of GDB. The Human Genome Initiative is a worldwide research effort focusing on structural analysis of human DNA to determine the location and sequence of the estimated 100,000 human genes. In support of this project, GDB stores and curates data generated by researchers worldwide who are engaged in the mapping effort of the Human Genome Project (HGP). GDB’s mission is to provide scientists with an encyclopedia of the human genome which is continually revised and updated to reflect the current state of scientific knowledge. Although GDB has historically focused on gene mapping, its focus will broaden as the Genome Project moves from mapping to sequence, and finally, to functional analysis. To access the GDB, simply go to the following hyperlink: http://www.gdb.org/. Search “All Biological Data” by “Keyword.” Type “Tay-Sachs disease” (or synonyms) into the search box, and review the results. If more than one word is used in the search box, then separate each one with the word “and” or “or” (using “or” might be useful when using synonyms).

20

Adapted from the National Library of Medicine: http://www.nlm.nih.gov/mesh/jablonski/about_syndrome.html. 21 Adapted from the Genome Database: http://gdbwww.gdb.org/gdb/aboutGDB.html - mission.

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APPENDIX B. PATIENT RESOURCES Overview Official agencies, as well as federally funded institutions supported by national grants, frequently publish a variety of guidelines written with the patient in mind. These are typically called “Fact Sheets” or “Guidelines.” They can take the form of a brochure, information kit, pamphlet, or flyer. Often they are only a few pages in length. Since new guidelines on Tay-Sachs disease can appear at any moment and be published by a number of sources, the best approach to finding guidelines is to systematically scan the Internetbased services that post them.

Patient Guideline Sources The remainder of this chapter directs you to sources which either publish or can help you find additional guidelines on topics related to Tay-Sachs disease. Due to space limitations, these sources are listed in a concise manner. Do not hesitate to consult the following sources by either using the Internet hyperlink provided, or, in cases where the contact information is provided, contacting the publisher or author directly. The National Institutes of Health The NIH gateway to patients is located at http://health.nih.gov/. From this site, you can search across various sources and institutes, a number of which are summarized below. Topic Pages: MEDLINEplus The National Library of Medicine has created a vast and patient-oriented healthcare information portal called MEDLINEplus. Within this Internet-based system are “health topic pages” which list links to available materials relevant to Tay-Sachs disease. To access this system, log on to http://www.nlm.nih.gov/medlineplus/healthtopics.html. From there you can either search using the alphabetical index or browse by broad topic areas. Recently, MEDLINEplus listed the following when searched for “Tay-Sachs disease”:

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•

Tay-Sachs Disease

Guides on Tay-Sachs disease Metabolic Disorders http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html

•

Other guides Brain Diseases http://www.nlm.nih.gov/medlineplus/braindiseases.html Gaucher's Disease http://www.nlm.nih.gov/medlineplus/gauchersdisease.html Genetic Brain Disorders http://www.nlm.nih.gov/medlineplus/geneticbraindisorders.html Genetic Disorders http://www.nlm.nih.gov/medlineplus/geneticdisorders.html Leukodystrophies http://www.nlm.nih.gov/medlineplus/leukodystrophies.html Muscular Dystrophy http://www.nlm.nih.gov/medlineplus/musculardystrophy.html Neuromuscular Disorders http://www.nlm.nih.gov/medlineplus/neuromusculardisorders.html Tay-Sachs Disease http://www.nlm.nih.gov/medlineplus/taysachsdisease.html

Within the health topic page dedicated to Tay-Sachs disease, the following was listed: •

Specific Conditions/Aspects Sandhoff Disease Source: National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/health_and_medical/disorders/sandhoff.htm

•

From the National Institutes of Health Learning About Tay-Sachs Disease Source: National Human Genome Research Institute http://www.genome.gov/page.cfm?pageID=10001220

•

Organizations National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/

•

Prevention/Screening Tay-Sachs, Gaucher, and Canavan Disease Source: American Association for Clinical Chemistry http://www.labtestsonline.org/understanding/conditions/pregnancy-12.html

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You may also choose to use the search utility provided by MEDLINEplus at the following Web address: http://www.nlm.nih.gov/medlineplus/. Simply type a keyword into the search box and click “Search.” This utility is similar to the NIH search utility, with the exception that it only includes materials that are linked within the MEDLINEplus system (mostly patient-oriented information). It also has the disadvantage of generating unstructured results. We recommend, therefore, that you use this method only if you have a very targeted search. Healthfinder™ Healthfinder™ is sponsored by the U.S. Department of Health and Human Services and offers links to hundreds of other sites that contain healthcare information. This Web site is located at http://www.healthfinder.gov. Again, keyword searches can be used to find guidelines. The following was recently found in this database: •

Tay-Sachs Disease Summary: A general overview of Tay-Sachs disease that includes a description of the disorder, treatment, prognosis and research information. Source: National Institute of Neurological Disorders and Stroke, National Institutes of Health http://www.healthfinder.gov/scripts/recordpass.asp?RecordType=0&RecordID=793

•

Tay-Sachs Disease Facts Summary: This public health education information fact sheet provides general information about this inherited birth defect including causes, diagnosis, treatment, and current research. Source: NOAH: New York Online Access to Health http://www.healthfinder.gov/scripts/recordpass.asp?RecordType=0&RecordID=3274 The NIH Search Utility

The NIH search utility allows you to search for documents on over 100 selected Web sites that comprise the NIH-WEB-SPACE. Each of these servers is “crawled” and indexed on an ongoing basis. Your search will produce a list of various documents, all of which will relate in some way to Tay-Sachs disease. The drawbacks of this approach are that the information is not organized by theme and that the references are often a mix of information for professionals and patients. Nevertheless, a large number of the listed Web sites provide useful background information. We can only recommend this route, therefore, for relatively rare or specific disorders, or when using highly targeted searches. To use the NIH search utility, visit the following Web page: http://search.nih.gov/index.html.

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Additional Web Sources A number of Web sites are available to the public that often link to government sites. These can also point you in the direction of essential information. The following is a representative sample: •


•

Family Village: http://www.familyvillage.wisc.edu/specific.htm

•

Google: http://directory.google.com/Top/Health/Conditions_and_Diseases/

•

Med Help International: http://www.medhelp.org/HealthTopics/A.html

•

Open Directory Project: http://dmoz.org/Health/Conditions_and_Diseases/

•

Yahoo.com: http://dir.yahoo.com/Health/Diseases_and_Conditions/

•

WebMDHealth: http://my.webmd.com/health_topics

Finding Associations There are several Internet directories that provide lists of medical associations with information on or resources relating to Tay-Sachs disease. By consulting all of associations listed in this chapter, you will have nearly exhausted all sources for patient associations concerned with Tay-Sachs disease. The National Health Information Center (NHIC) The National Health Information Center (NHIC) offers a free referral service to help people find organizations that provide information about Tay-Sachs disease. For more information, see the NHIC’s Web site at http://www.health.gov/NHIC/ or contact an information specialist by calling 1-800-336-4797. Directory of Health Organizations The Directory of Health Organizations, provided by the National Library of Medicine Specialized Information Services, is a comprehensive source of information on associations. The Directory of Health Organizations database can be accessed via the Internet at http://www.sis.nlm.nih.gov/Dir/DirMain.html. It is composed of two parts: DIRLINE and Health Hotlines. The DIRLINE database comprises some 10,000 records of organizations, research centers, and government institutes and associations that primarily focus on health and biomedicine. To access DIRLINE directly, go to the following Web site: http://dirline.nlm.nih.gov/. Simply type in “Tay-Sachs disease” (or a synonym), and you will receive information on all relevant organizations listed in the database. Health Hotlines directs you to toll-free numbers to over 300 organizations. You can access this database directly at http://www.sis.nlm.nih.gov/hotlines/. On this page, you are given the option to search by keyword or by browsing the subject list. When you have received

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your search results, click on the name of the organization for its description and contact information. The Combined Health Information Database Another comprehensive source of information on healthcare associations is the Combined Health Information Database. Using the “Detailed Search” option, you will need to limit your search to “Organizations” and “Tay-Sachs disease”. Type the following hyperlink into your Web browser: http://chid.nih.gov/detail/detail.html. To find associations, use the drop boxes at the bottom of the search page where “You may refine your search by.” For publication date, select “All Years.” Then, select your preferred language and the format option “Organization Resource Sheet.” Type “Tay-Sachs disease” (or synonyms) into the “For these words:” box. You should check back periodically with this database since it is updated every three months. The National Organization for Rare Disorders, Inc. The National Organization for Rare Disorders, Inc. has prepared a Web site that provides, at no charge, lists of associations organized by health topic. You can access this database at the following Web site: http://www.rarediseases.org/search/orgsearch.html. Type “Tay-Sachs disease” (or a synonym) into the search box, and click “Submit Query.”

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APPENDIX C. FINDING MEDICAL LIBRARIES Overview In this Appendix, we show you how to quickly find a medical library in your area.

Preparation Your local public library and medical libraries have interlibrary loan programs with the National Library of Medicine (NLM), one of the largest medical collections in the world. According to the NLM, most of the literature in the general and historical collections of the National Library of Medicine is available on interlibrary loan to any library. If you would like to access NLM medical literature, then visit a library in your area that can request the publications for you.22

Finding a Local Medical Library The quickest method to locate medical libraries is to use the Internet-based directory published by the National Network of Libraries of Medicine (NN/LM). This network includes 4626 members and affiliates that provide many services to librarians, health professionals, and the public. To find a library in your area, simply visit http://nnlm.gov/members/adv.html or call 1-800-338-7657.

Medical Libraries in the U.S. and Canada In addition to the NN/LM, the National Library of Medicine (NLM) lists a number of libraries with reference facilities that are open to the public. The following is the NLM’s list and includes hyperlinks to each library’s Web site. These Web pages can provide information on hours of operation and other restrictions. The list below is a small sample of

22

Adapted from the NLM: http://www.nlm.nih.gov/psd/cas/interlibrary.html.

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libraries recommended by the National Library of Medicine (sorted alphabetically by name of the U.S. state or Canadian province where the library is located)23: •

Alabama: Health InfoNet of Jefferson County (Jefferson County Library Cooperative, Lister Hill Library of the Health Sciences), http://www.uab.edu/infonet/

•

Alabama: Richard M. Scrushy Library (American Sports Medicine Institute)

•

Arizona: Samaritan Regional Medical Center: The Learning Center (Samaritan Health System, Phoenix, Arizona), http://www.samaritan.edu/library/bannerlibs.htm

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California: Kris Kelly Health Information Center (St. Joseph Health System, Humboldt), http://www.humboldt1.com/~kkhic/index.html

•

California: Community Health Library of Los Gatos, http://www.healthlib.org/orgresources.html

•

California: Consumer Health Program and Services (CHIPS) (County of Los Angeles Public Library, Los Angeles County Harbor-UCLA Medical Center Library) - Carson, CA, http://www.colapublib.org/services/chips.html

•

California: Gateway Health Library (Sutter Gould Medical Foundation)

•

California: Health Library (Stanford University Medical Center), http://wwwmed.stanford.edu/healthlibrary/

•

California: Patient Education Resource Center - Health Information and Resources (University of California, San Francisco), http://sfghdean.ucsf.edu/barnett/PERC/default.asp

•

California: Redwood Health Library (Petaluma Health Care District), http://www.phcd.org/rdwdlib.html

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California: Los Gatos PlaneTree Health Library, http://planetreesanjose.org/

•

California: Sutter Resource Library (Sutter Hospitals Foundation, Sacramento), http://suttermedicalcenter.org/library/

•

California: Health Sciences Libraries (University of California, Davis), http://www.lib.ucdavis.edu/healthsci/

•

California: ValleyCare Health Library & Ryan Comer Cancer Resource Center (ValleyCare Health System, Pleasanton), http://gaelnet.stmarysca.edu/other.libs/gbal/east/vchl.html

•

California: Washington Community Health Resource Library (Fremont), http://www.healthlibrary.org/

•

Colorado: William V. Gervasini Memorial Library (Exempla Healthcare), http://www.saintjosephdenver.org/yourhealth/libraries/

•

Connecticut: Hartford Hospital Health Science Libraries (Hartford Hospital), http://www.harthosp.org/library/

•

Connecticut: Healthnet: Connecticut Consumer Health Information Center (University of Connecticut Health Center, Lyman Maynard Stowe Library), http://library.uchc.edu/departm/hnet/

23

Abstracted from http://www.nlm.nih.gov/medlineplus/libraries.html.

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•

Connecticut: Waterbury Hospital Health Center Library (Waterbury Hospital, Waterbury), http://www.waterburyhospital.com/library/consumer.shtml

•

Delaware: Consumer Health Library (Christiana Care Health System, Eugene du Pont Preventive Medicine & Rehabilitation Institute, Wilmington), http://www.christianacare.org/health_guide/health_guide_pmri_health_info.cfm

•

Delaware: Lewis B. Flinn Library (Delaware Academy of Medicine, Wilmington), http://www.delamed.org/chls.html

•

Georgia: Family Resource Library (Medical College of Georgia, Augusta), http://cmc.mcg.edu/kids_families/fam_resources/fam_res_lib/frl.htm

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Georgia: Health Resource Center (Medical Center of Central Georgia, Macon), http://www.mccg.org/hrc/hrchome.asp

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Hawaii: Hawaii Medical Library: Consumer Health Information Service (Hawaii Medical Library, Honolulu), http://hml.org/CHIS/

•

Idaho: DeArmond Consumer Health Library (Kootenai Medical Center, Coeur d’Alene), http://www.nicon.org/DeArmond/index.htm

•

Illinois: Health Learning Center of Northwestern Memorial Hospital (Chicago), http://www.nmh.org/health_info/hlc.html

•

Illinois: Medical Library (OSF Saint Francis Medical Center, Peoria), http://www.osfsaintfrancis.org/general/library/

•

Kentucky: Medical Library - Services for Patients, Families, Students & the Public (Central Baptist Hospital, Lexington), http://www.centralbap.com/education/community/library.cfm

•

Kentucky: University of Kentucky - Health Information Library (Chandler Medical Center, Lexington), http://www.mc.uky.edu/PatientEd/

•

Louisiana: Alton Ochsner Medical Foundation Library (Alton Ochsner Medical Foundation, New Orleans), http://www.ochsner.org/library/

•

Louisiana: Louisiana State University Health Sciences Center Medical LibraryShreveport, http://lib-sh.lsuhsc.edu/

•

Maine: Franklin Memorial Hospital Medical Library (Franklin Memorial Hospital, Farmington), http://www.fchn.org/fmh/lib.htm

•

Maine: Gerrish-True Health Sciences Library (Central Maine Medical Center, Lewiston), http://www.cmmc.org/library/library.html

•

Maine: Hadley Parrot Health Science Library (Eastern Maine Healthcare, Bangor), http://www.emh.org/hll/hpl/guide.htm

•

Maine: Maine Medical Center Library (Maine Medical Center, Portland), http://www.mmc.org/library/

•

Maine: Parkview Hospital (Brunswick), http://www.parkviewhospital.org/

•

Maine: Southern Maine Medical Center Health Sciences Library (Southern Maine Medical Center, Biddeford), http://www.smmc.org/services/service.php3?choice=10

•

Maine: Stephens Memorial Hospital’s Health Information Library (Western Maine Health, Norway), http://www.wmhcc.org/Library/

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•

Manitoba, Canada: Consumer & Patient Health Information Service (University of Manitoba Libraries), http://www.umanitoba.ca/libraries/units/health/reference/chis.html

•

Manitoba, Canada: J.W. Crane Memorial Library (Deer Lodge Centre, Winnipeg), http://www.deerlodge.mb.ca/crane_library/about.asp

•

Maryland: Health Information Center at the Wheaton Regional Library (Montgomery County, Dept. of Public Libraries, Wheaton Regional Library), http://www.mont.lib.md.us/healthinfo/hic.asp

•

Massachusetts: Baystate Medical Center Library (Baystate Health System), http://www.baystatehealth.com/1024/

•

Massachusetts: Boston University Medical Center Alumni Medical Library (Boston University Medical Center), http://med-libwww.bu.edu/library/lib.html

•

Massachusetts: Lowell General Hospital Health Sciences Library (Lowell General Hospital, Lowell), http://www.lowellgeneral.org/library/HomePageLinks/WWW.htm

•

Massachusetts: Paul E. Woodard Health Sciences Library (New England Baptist Hospital, Boston), http://www.nebh.org/health_lib.asp

•

Massachusetts: St. Luke’s Hospital Health Sciences Library (St. Luke’s Hospital, Southcoast Health System, New Bedford), http://www.southcoast.org/library/

•

Massachusetts: Treadwell Library Consumer Health Reference Center (Massachusetts General Hospital), http://www.mgh.harvard.edu/library/chrcindex.html

•

Massachusetts: UMass HealthNet (University of Massachusetts Medical School, Worchester), http://healthnet.umassmed.edu/

•

Michigan: Botsford General Hospital Library - Consumer Health (Botsford General Hospital, Library & Internet Services), http://www.botsfordlibrary.org/consumer.htm

•

Michigan: Helen DeRoy Medical Library (Providence Hospital and Medical Centers), http://www.providence-hospital.org/library/

•

Michigan: Marquette General Hospital - Consumer Health Library (Marquette General Hospital, Health Information Center), http://www.mgh.org/center.html

•

Michigan: Patient Education Resouce Center - University of Michigan Cancer Center (University of Michigan Comprehensive Cancer Center, Ann Arbor), http://www.cancer.med.umich.edu/learn/leares.htm

•

Michigan: Sladen Library & Center for Health Information Resources - Consumer Health Information (Detroit), http://www.henryford.com/body.cfm?id=39330

•

Montana: Center for Health Information (St. Patrick Hospital and Health Sciences Center, Missoula)

•

National: Consumer Health Library Directory (Medical Library Association, Consumer and Patient Health Information Section), http://caphis.mlanet.org/directory/index.html

•

National: National Network of Libraries of Medicine (National Library of Medicine) provides library services for health professionals in the United States who do not have access to a medical library, http://nnlm.gov/

•

National: NN/LM List of Libraries Serving the Public (National Network of Libraries of Medicine), http://nnlm.gov/members/

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•

Nevada: Health Science Library, West Charleston Library (Las Vegas-Clark County Library District, Las Vegas), http://www.lvccld.org/special_collections/medical/index.htm

•

New Hampshire: Dartmouth Biomedical Libraries (Dartmouth College Library, Hanover), http://www.dartmouth.edu/~biomed/resources.htmld/conshealth.htmld/

•

New Jersey: Consumer Health Library (Rahway Hospital, Rahway), http://www.rahwayhospital.com/library.htm

•

New Jersey: Dr. Walter Phillips Health Sciences Library (Englewood Hospital and Medical Center, Englewood), http://www.englewoodhospital.com/links/index.htm

•

New Jersey: Meland Foundation (Englewood Hospital and Medical Center, Englewood), http://www.geocities.com/ResearchTriangle/9360/

•

New York: Choices in Health Information (New York Public Library) - NLM Consumer Pilot Project participant, http://www.nypl.org/branch/health/links.html

•

New York: Health Information Center (Upstate Medical University, State University of New York, Syracuse), http://www.upstate.edu/library/hic/

•

New York: Health Sciences Library (Long Island Jewish Medical Center, New Hyde Park), http://www.lij.edu/library/library.html

•

New York: ViaHealth Medical Library (Rochester General Hospital), http://www.nyam.org/library/

•

Ohio: Consumer Health Library (Akron General Medical Center, Medical & Consumer Health Library), http://www.akrongeneral.org/hwlibrary.htm

•

Oklahoma: The Health Information Center at Saint Francis Hospital (Saint Francis Health System, Tulsa), http://www.sfh-tulsa.com/services/healthinfo.asp

•

Oregon: Planetree Health Resource Center (Mid-Columbia Medical Center, The Dalles), http://www.mcmc.net/phrc/

•

Pennsylvania: Community Health Information Library (Milton S. Hershey Medical Center, Hershey), http://www.hmc.psu.edu/commhealth/

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Pennsylvania: Community Health Resource Library (Geisinger Medical Center, Danville), http://www.geisinger.edu/education/commlib.shtml

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Pennsylvania: HealthInfo Library (Moses Taylor Hospital, Scranton), http://www.mth.org/healthwellness.html

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Pennsylvania: Hopwood Library (University of Pittsburgh, Health Sciences Library System, Pittsburgh), http://www.hsls.pitt.edu/guides/chi/hopwood/index_html

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Pennsylvania: Koop Community Health Information Center (College of Physicians of Philadelphia), http://www.collphyphil.org/kooppg1.shtml

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Pennsylvania: Learning Resources Center - Medical Library (Susquehanna Health System, Williamsport), http://www.shscares.org/services/lrc/index.asp

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Pennsylvania: Medical Library (UPMC Health System, Pittsburgh), http://www.upmc.edu/passavant/library.htm

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Quebec, Canada: Medical Library (Montreal General Hospital), http://www.mghlib.mcgill.ca/

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South Dakota: Rapid City Regional Hospital Medical Library (Rapid City Regional Hospital), http://www.rcrh.org/Services/Library/Default.asp

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Texas: Houston HealthWays (Houston Academy of Medicine-Texas Medical Center Library), http://hhw.library.tmc.edu/

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Washington: Community Health Library (Kittitas Valley Community Hospital), http://www.kvch.com/

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Washington: Southwest Washington Medical Center Library (Southwest Washington Medical Center, Vancouver), http://www.swmedicalcenter.com/body.cfm?id=72

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ONLINE GLOSSARIES The Internet provides access to a number of free-to-use medical dictionaries. The National Library of Medicine has compiled the following list of online dictionaries: •

ADAM Medical Encyclopedia (A.D.A.M., Inc.), comprehensive medical reference: http://www.nlm.nih.gov/medlineplus/encyclopedia.html

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MedicineNet.com Medical Dictionary (MedicineNet, Inc.): http://www.medterms.com/Script/Main/hp.asp

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Merriam-Webster Medical Dictionary (Inteli-Health, Inc.): http://www.intelihealth.com/IH/

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Multilingual Glossary of Technical and Popular Medical Terms in Eight European Languages (European Commission) - Danish, Dutch, English, French, German, Italian, Portuguese, and Spanish: http://allserv.rug.ac.be/~rvdstich/eugloss/welcome.html

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On-line Medical Dictionary (CancerWEB): http://cancerweb.ncl.ac.uk/omd/

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Rare Diseases Terms (Office of Rare Diseases): http://ord.aspensys.com/asp/diseases/diseases.asp

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Technology Glossary (National Library of Medicine) - Health Care Technology: http://www.nlm.nih.gov/nichsr/ta101/ta10108.htm

Beyond these, MEDLINEplus contains a very patient-friendly encyclopedia covering every aspect of medicine (licensed from A.D.A.M., Inc.). The ADAM Medical Encyclopedia can be accessed at http://www.nlm.nih.gov/medlineplus/encyclopedia.html. ADAM is also available on commercial Web sites such as drkoop.com (http://www.drkoop.com/) and Web MD (http://my.webmd.com/adam/asset/adam_disease_articles/a_to_z/a). The NIH suggests the following Web sites in the ADAM Medical Encyclopedia when searching for information on Tay-Sachs disease: •

Basic Guidelines for Tay-Sachs Disease Amaurotic familial idiocy Web site: http://www.nlm.nih.gov/medlineplus/ency/article/001613.htm Tay-Sachs disease Web site: http://www.nlm.nih.gov/medlineplus/ency/article/001417.htm

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Signs & Symptoms for Tay-Sachs Disease Ataxia Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003198.htm Blindness Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003040.htm Choreoathetosis Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003197.htm

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Deafness Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003044.htm Decreased muscle tone Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003298.htm Difficulty breathing Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003075.htm Incoordination Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003198.htm Irritability Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003214.htm Muscle Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003193.htm Muscle function loss Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003190.htm Paralysis Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003190.htm Seizure Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003200.htm Seizures Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003200.htm Spasticity Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003297.htm Stress Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003211.htm Unsteady gait Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003199.htm Visual problems Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003029.htm •

Diagnostics and Tests for Tay-Sachs Disease ANA Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003535.htm Biopsy Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003416.htm

Online Glossaries 91

•

Background Topics for Tay-Sachs Disease Autosomal recessive Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002052.htm Enzyme Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002353.htm Enzyme markers Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002354.htm Genetic counseling Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002053.htm Incidence Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002387.htm Lipofuscin Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002242.htm Macula Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002252.htm Metabolism Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002257.htm Physical examination Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002274.htm Prenatal diagnosis Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002053.htm Support groups Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002150.htm Tay-Sachs - support group Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003936.htm

Online Dictionary Directories The following are additional online directories compiled by the National Library of Medicine, including a number of specialized medical dictionaries: •

Medical Dictionaries: Medical & Biological (World Health Organization): http://www.who.int/hlt/virtuallibrary/English/diction.htm#Medical

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MEL-Michigan Electronic Library List of Online Health and Medical Dictionaries (Michigan Electronic Library): http://mel.lib.mi.us/health/health-dictionaries.html

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Patient Education: Glossaries (DMOZ Open Directory Project): http://dmoz.org/Health/Education/Patient_Education/Glossaries/

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Web of Online Dictionaries (Bucknell University): http://www.yourdictionary.com/diction5.html#medicine

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TAY-SACHS DISEASE DICTIONARY The definitions below are derived from official public sources, including the National Institutes of Health [NIH] and the European Union [EU]. Abdomen: That portion of the body that lies between the thorax and the pelvis. [NIH] Abdominal: Having to do with the abdomen, which is the part of the body between the chest and the hips that contains the pancreas, stomach, intestines, liver, gallbladder, and other organs. [NIH] Abortion: 1. The premature expulsion from the uterus of the products of conception - of the embryo, or of a nonviable fetus. The four classic symptoms, usually present in each type of abortion, are uterine contractions, uterine haemorrhage, softening and dilatation of the cervix, and presentation or expulsion of all or part of the products of conception. 2. Premature stoppage of a natural or a pathological process. [EU] Acceptor: A substance which, while normally not oxidized by oxygen or reduced by hydrogen, can be oxidized or reduced in presence of a substance which is itself undergoing oxidation or reduction. [NIH] Acetylgalactosamine: The N-acetyl derivative of galactosamine. [NIH] Acetylglucosamine: The N-acetyl derivative of glucosamine. [NIH] Acrylamide: A colorless, odorless, highly water soluble vinyl monomer formed from the hydration of acrylonitrile. It is primarily used in research laboratories for electrophoresis, chromatography, and electron microscopy and in the sewage and wastewater treatment industries. [NIH] Acrylonitrile: A highly poisonous compound used widely in the manufacture of plastics, adhesives and synthetic rubber. [NIH] Algorithms: A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task. [NIH] Alleles: Mutually exclusive forms of the same gene, occupying the same locus on homologous chromosomes, and governing the same biochemical and developmental process. [NIH] Alternative medicine: Practices not generally recognized by the medical community as standard or conventional medical approaches and used instead of standard treatments. Alternative medicine includes the taking of dietary supplements, megadose vitamins, and herbal preparations; the drinking of special teas; and practices such as massage therapy, magnet therapy, spiritual healing, and meditation. [NIH] Amino acid: Any organic compound containing an amino (-NH2 and a carboxyl (- COOH) group. The 20 a-amino acids listed in the accompanying table are the amino acids from which proteins are synthesized by formation of peptide bonds during ribosomal translation of messenger RNA; all except glycine, which is not optically active, have the L configuration. Other amino acids occurring in proteins, such as hydroxyproline in collagen, are formed by posttranslational enzymatic modification of amino acids residues in polypeptide chains. There are also several important amino acids, such as the neurotransmitter y-aminobutyric acid, that have no relation to proteins. Abbreviated AA. [EU] Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining protein conformation. [NIH]

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Amniocentesis: Percutaneous transabdominal puncture of the uterus during pregnancy to obtain amniotic fluid. It is commonly used for fetal karyotype determination in order to diagnose abnormal fetal conditions. [NIH] Amnion: The extraembryonic membrane which contains the embryo and amniotic fluid. [NIH]

Amniotic Fluid: Amniotic cavity fluid which is produced by the amnion and fetal lungs and kidneys. [NIH] Amplification: The production of additional copies of a chromosomal DNA sequence, found as either intrachromosomal or extrachromosomal DNA. [NIH] Amyloid: A general term for a variety of different proteins that accumulate as extracellular fibrils of 7-10 nm and have common structural features, including a beta-pleated sheet conformation and the ability to bind such dyes as Congo red and thioflavine (Kandel, Schwartz, and Jessel, Principles of Neural Science, 3rd ed). [NIH] Anal: Having to do with the anus, which is the posterior opening of the large bowel. [NIH] Anatomical: Pertaining to anatomy, or to the structure of the organism. [EU] Anemia: A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin. [NIH] Angiography: Radiography of blood vessels after injection of a contrast medium. [NIH] Anions: Negatively charged atoms, radicals or groups of atoms which travel to the anode or positive pole during electrolysis. [NIH] Annealing: The spontaneous alignment of two single DNA strands to form a double helix. [NIH]

Anti-Anxiety Agents: Agents that alleviate anxiety, tension, and neurotic symptoms, promote sedation, and have a calming effect without affecting clarity of consciousness or neurologic conditions. Some are also effective as anticonvulsants, muscle relaxants, or anesthesia adjuvants. Adrenergic beta-antagonists are commonly used in the symptomatic treatment of anxiety but are not included here. [NIH] Antibody: A type of protein made by certain white blood cells in response to a foreign substance (antigen). Each antibody can bind to only a specific antigen. The purpose of this binding is to help destroy the antigen. Antibodies can work in several ways, depending on the nature of the antigen. Some antibodies destroy antigens directly. Others make it easier for white blood cells to destroy the antigen. [NIH] Antidepressive Agents: Mood-stimulating drugs used primarily in the treatment of affective disorders and related conditions. Several monoamine oxidase inhibitors are useful as antidepressants apparently as a long-term consequence of their modulation of catecholamine levels. The tricyclic compounds useful as antidepressive agents also appear to act through brain catecholamine systems. A third group (antidepressive agents, secondgeneration) is a diverse group of drugs including some that act specifically on serotonergic systems. [NIH] Antigens: Substances that are recognized by the immune system and induce an immune reaction. [NIH] Anus: The opening of the rectum to the outside of the body. [NIH] Aqueous: Having to do with water. [NIH] Arginine: An essential amino acid that is physiologically active in the L-form. [NIH] Aromatic: Having a spicy odour. [EU] Arterial: Pertaining to an artery or to the arteries. [EU]

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Arteries: The vessels carrying blood away from the heart. [NIH] Aspartate: A synthetic amino acid. [NIH] Aspiration: The act of inhaling. [NIH] Assay: Determination of the amount of a particular constituent of a mixture, or of the biological or pharmacological potency of a drug. [EU] Ataxia: Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharnyx, larnyx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or peripheral nerve diseases. Motor ataxia may be associated with cerebellar diseases; cerebral cortex diseases; thalamic diseases; basal ganglia diseases; injury to the red nucleus; and other conditions. [NIH] Atrophy: Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes. [NIH] Atypical: Irregular; not conformable to the type; in microbiology, applied specifically to strains of unusual type. [EU] Auditory: Pertaining to the sense of hearing. [EU] Autopsy: Postmortem examination of the body. [NIH] Axonal: Condition associated with metabolic derangement of the entire neuron and is manifest by degeneration of the distal portion of the nerve fiber. [NIH] Bacteria: Unicellular prokaryotic microorganisms which generally possess rigid cell walls, multiply by cell division, and exhibit three principal forms: round or coccal, rodlike or bacillary, and spiral or spirochetal. [NIH] Basal Ganglia: Large subcortical nuclear masses derived from the telencephalon and located in the basal regions of the cerebral hemispheres. [NIH] Basal Ganglia Diseases: Diseases of the basal ganglia including the putamen; globus pallidus; claustrum; amygdala; and caudate nucleus. Dyskinesias (most notably involuntary movements and alterations of the rate of movement) represent the primary clinical manifestations of these disorders. Common etiologies include cerebrovascular disease; neurodegenerative diseases; and craniocerebral trauma. [NIH] Base: In chemistry, the nonacid part of a salt; a substance that combines with acids to form salts; a substance that dissociates to give hydroxide ions in aqueous solutions; a substance whose molecule or ion can combine with a proton (hydrogen ion); a substance capable of donating a pair of electrons (to an acid) for the formation of a coordinate covalent bond. [EU] Base Sequence: The sequence of purines and pyrimidines in nucleic acids and polynucleotides. It is also called nucleotide or nucleoside sequence. [NIH] Basophils: Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes. [NIH] Biochemical: Relating to biochemistry; characterized by, produced by, or involving chemical reactions in living organisms. [EU] Biopsy: Removal and pathologic examination of specimens in the form of small pieces of tissue from the living body. [NIH] Biotechnology: Body of knowledge related to the use of organisms, cells or cell-derived constituents for the purpose of developing products which are technically, scientifically and clinically useful. Alteration of biologic function at the molecular level (i.e., genetic

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engineering) is a central focus; laboratory methods used include transfection and cloning technologies, sequence and structure analysis algorithms, computer databases, and gene and protein structure function analysis and prediction. [NIH] Bladder: The organ that stores urine. [NIH] Blastomeres: The undifferentiated cells formed by cleavage of the fertilized ovum. This includes cells in the cleavage, morula, and blastula stages of the embryo. [NIH] Blood vessel: A tube in the body through which blood circulates. Blood vessels include a network of arteries, arterioles, capillaries, venules, and veins. [NIH] Bone Marrow: The soft tissue filling the cavities of bones. Bone marrow exists in two types, yellow and red. Yellow marrow is found in the large cavities of large bones and consists mostly of fat cells and a few primitive blood cells. Red marrow is a hematopoietic tissue and is the site of production of erythrocytes and granular leukocytes. Bone marrow is made up of a framework of connective tissue containing branching fibers with the frame being filled with marrow cells. [NIH] Branch: Most commonly used for branches of nerves, but applied also to other structures. [NIH]

Carbohydrate: An aldehyde or ketone derivative of a polyhydric alcohol, particularly of the pentahydric and hexahydric alcohols. They are so named because the hydrogen and oxygen are usually in the proportion to form water, (CH2O)n. The most important carbohydrates are the starches, sugars, celluloses, and gums. They are classified into mono-, di-, tri-, polyand heterosaccharides. [EU] Carcinogens: Substances that increase the risk of neoplasms in humans or animals. Both genotoxic chemicals, which affect DNA directly, and nongenotoxic chemicals, which induce neoplasms by other mechanism, are included. [NIH] Case report: A detailed report of the diagnosis, treatment, and follow-up of an individual patient. Case reports also contain some demographic information about the patient (for example, age, gender, ethnic origin). [NIH] Catabolism: Any destructive metabolic process by which organisms convert substances into excreted compounds. [EU] Causal: Pertaining to a cause; directed against a cause. [EU] Cell: The individual unit that makes up all of the tissues of the body. All living things are made up of one or more cells. [NIH] Cell Division: The fission of a cell. [NIH] Cell Fusion: Fusion of somatic cells in vitro or in vivo, which results in somatic cell hybridization. [NIH] Cellobiose: A disaccharide consisting of two glucose units in beta (1-4) glycosidic linkage. Obtained from the partial hydrolysis of cellulose. [NIH] Cellulose: A polysaccharide with glucose units linked as in cellobiose. It is the chief constituent of plant fibers, cotton being the purest natural form of the substance. As a raw material, it forms the basis for many derivatives used in chromatography, ion exchange materials, explosives manufacturing, and pharmaceutical preparations. [NIH] Central Nervous System: The main information-processing organs of the nervous system, consisting of the brain, spinal cord, and meninges. [NIH] Ceramide: A type of fat produced in the body. It may cause some types of cells to die, and is being studied in cancer treatment. [NIH] Cerebellar: Pertaining to the cerebellum. [EU]

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Cerebellar Diseases: Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia. [NIH] Cerebellum: Part of the metencephalon that lies in the posterior cranial fossa behind the brain stem. It is concerned with the coordination of movement. [NIH] Cerebral: Of or pertaining of the cerebrum or the brain. [EU] Cerebral Cortex: The thin layer of gray matter on the surface of the cerebral hemisphere that develops from the telencephalon and folds into gyri. It reaches its highest development in man and is responsible for intellectual faculties and higher mental functions. [NIH] Cerebral hemispheres: The two halves of the cerebrum, the part of the brain that controls muscle functions of the body and also controls speech, emotions, reading, writing, and learning. The right hemisphere controls muscle movement on the left side of the body, and the left hemisphere controls muscle movement on the right side of the body. [NIH] Cerebrum: The largest part of the brain. It is divided into two hemispheres, or halves, called the cerebral hemispheres. The cerebrum controls muscle functions of the body and also controls speech, emotions, reading, writing, and learning. [NIH] Cervix: The lower, narrow end of the uterus that forms a canal between the uterus and vagina. [NIH] Cholesterol: The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils. [NIH] Cholesterol Esters: Fatty acid esters of cholesterol which constitute about two-thirds of the cholesterol in the plasma. The accumulation of cholesterol esters in the arterial intima is a characteristic feature of atherosclerosis. [NIH] Chorion: The outermost extraembryonic membrane. [NIH] Chorionic Villi: The threadlike, vascular projections of the chorion which enter into the formation of the placenta. [NIH] Chorionic Villi Sampling: A method for diagnosis of fetal diseases by sampling the cells of the placental chorionic villi for DNA analysis, presence of bacteria, concentration of metabolites, etc. The advantage over amniocentesis is that the procedure can be carried out in the first trimester. [NIH] Choroid: The thin, highly vascular membrane covering most of the posterior of the eye between the retina and sclera. [NIH] Chromosomal: Pertaining to chromosomes. [EU] Chromosome: Part of a cell that contains genetic information. Except for sperm and eggs, all human cells contain 46 chromosomes. [NIH] Chronic: A disease or condition that persists or progresses over a long period of time. [NIH] Chronic renal: Slow and progressive loss of kidney function over several years, often resulting in end-stage renal disease. People with end-stage renal disease need dialysis or transplantation to replace the work of the kidneys. [NIH] Clear cell carcinoma: A rare type of tumor of the female genital tract in which the inside of the cells looks clear when viewed under a microscope. [NIH] Clinical Medicine: The study and practice of medicine by direct examination of the patient. [NIH]

Clinical trial: A research study that tests how well new medical treatments or other interventions work in people. Each study is designed to test new methods of screening, prevention, diagnosis, or treatment of a disease. [NIH]

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Cloning: The production of a number of genetically identical individuals; in genetic engineering, a process for the efficient replication of a great number of identical DNA molecules. [NIH] Codon: A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (codon, terminator). Most codons are universal, but some organisms do not produce the transfer RNAs (RNA, transfer) complementary to all codons. These codons are referred to as unassigned codons (codons, nonsense). [NIH] Cofactor: A substance, microorganism or environmental factor that activates or enhances the action of another entity such as a disease-causing agent. [NIH] Cohort Studies: Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics. [NIH] Collagen: A polypeptide substance comprising about one third of the total protein in mammalian organisms. It is the main constituent of skin, connective tissue, and the organic substance of bones and teeth. Different forms of collagen are produced in the body but all consist of three alpha-polypeptide chains arranged in a triple helix. Collagen is differentiated from other fibrous proteins, such as elastin, by the content of proline, hydroxyproline, and hydroxylysine; by the absence of tryptophan; and particularly by the high content of polar groups which are responsible for its swelling properties. [NIH] Colloidal: Of the nature of a colloid. [EU] Colon: The long, coiled, tubelike organ that removes water from digested food. The remaining material, solid waste called stool, moves through the colon to the rectum and leaves the body through the anus. [NIH] Complement: A term originally used to refer to the heat-labile factor in serum that causes immune cytolysis, the lysis of antibody-coated cells, and now referring to the entire functionally related system comprising at least 20 distinct serum proteins that is the effector not only of immune cytolysis but also of other biologic functions. Complement activation occurs by two different sequences, the classic and alternative pathways. The proteins of the classic pathway are termed 'components of complement' and are designated by the symbols C1 through C9. C1 is a calcium-dependent complex of three distinct proteins C1q, C1r and C1s. The proteins of the alternative pathway (collectively referred to as the properdin system) and complement regulatory proteins are known by semisystematic or trivial names. Fragments resulting from proteolytic cleavage of complement proteins are designated with lower-case letter suffixes, e.g., C3a. Inactivated fragments may be designated with the suffix 'i', e.g. C3bi. Activated components or complexes with biological activity are designated by a bar over the symbol e.g. C1 or C4b,2a. The classic pathway is activated by the binding of C1 to classic pathway activators, primarily antigen-antibody complexes containing IgM, IgG1, IgG3; C1q binds to a single IgM molecule or two adjacent IgG molecules. The alternative pathway can be activated by IgA immune complexes and also by nonimmunologic materials including bacterial endotoxins, microbial polysaccharides, and cell walls. Activation of the classic pathway triggers an enzymatic cascade involving C1, C4, C2 and C3; activation of the alternative pathway triggers a cascade involving C3 and factors B, D and P. Both result in the cleavage of C5 and the formation of the membrane attack complex. Complement activation also results in the formation of many biologically active complement fragments that act as anaphylatoxins, opsonins, or chemotactic factors. [EU] Complementary and alternative medicine: CAM. Forms of treatment that are used in addition to (complementary) or instead of (alternative) standard treatments. These practices

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are not considered standard medical approaches. CAM includes dietary supplements, megadose vitamins, herbal preparations, special teas, massage therapy, magnet therapy, spiritual healing, and meditation. [NIH] Complementary medicine: Practices not generally recognized by the medical community as standard or conventional medical approaches and used to enhance or complement the standard treatments. Complementary medicine includes the taking of dietary supplements, megadose vitamins, and herbal preparations; the drinking of special teas; and practices such as massage therapy, magnet therapy, spiritual healing, and meditation. [NIH] Complementation: The production of a wild-type phenotype when two different mutations are combined in a diploid or a heterokaryon and tested in trans-configuration. [NIH] Computational Biology: A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories applicable to molecular biology and areas of computer-based techniques for solving biological problems including manipulation of models and datasets. [NIH] Conception: The onset of pregnancy, marked by implantation of the blastocyst; the formation of a viable zygote. [EU] Connective Tissue: Tissue that supports and binds other tissues. It consists of connective tissue cells embedded in a large amount of extracellular matrix. [NIH] Connective Tissue: Tissue that supports and binds other tissues. It consists of connective tissue cells embedded in a large amount of extracellular matrix. [NIH] Contamination: The soiling or pollution by inferior material, as by the introduction of organisms into a wound, or sewage into a stream. [EU] Contraindications: Any factor or sign that it is unwise to pursue a certain kind of action or treatment, e. g. giving a general anesthetic to a person with pneumonia. [NIH] Contrast medium: A substance that is introduced into or around a structure and, because of the difference in absorption of x-rays by the contrast medium and the surrounding tissues, allows radiographic visualization of the structure. [EU] Cornea: The transparent part of the eye that covers the iris and the pupil and allows light to enter the inside. [NIH] Coronary: Encircling in the manner of a crown; a term applied to vessels; nerves, ligaments, etc. The term usually denotes the arteries that supply the heart muscle and, by extension, a pathologic involvement of them. [EU] Coronary Thrombosis: Presence of a thrombus in a coronary artery, often causing a myocardial infarction. [NIH] Cortex: The outer layer of an organ or other body structure, as distinguished from the internal substance. [EU] Cortical: Pertaining to or of the nature of a cortex or bark. [EU] Cross-Sectional Studies: Studies in which the presence or absence of disease or other health-related variables are determined in each member of the study population or in a representative sample at one particular time. This contrasts with longitudinal studies which are followed over a period of time. [NIH] Cultured cells: Animal or human cells that are grown in the laboratory. [NIH] Cytoplasm: The protoplasm of a cell exclusive of that of the nucleus; it consists of a continuous aqueous solution (cytosol) and the organelles and inclusions suspended in it (phaneroplasm), and is the site of most of the chemical activities of the cell. [EU]

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Databases, Bibliographic: Extensive collections, reputedly complete, of references and citations to books, articles, publications, etc., generally on a single subject or specialized subject area. Databases can operate through automated files, libraries, or computer disks. The concept should be differentiated from factual databases which is used for collections of data and facts apart from bibliographic references to them. [NIH] Deletion: A genetic rearrangement through loss of segments of DNA (chromosomes), bringing sequences, which are normally separated, into close proximity. [NIH] Denaturation: Rupture of the hydrogen bonds by heating a DNA solution and then cooling it rapidly causes the two complementary strands to separate. [NIH] Density: The logarithm to the base 10 of the opacity of an exposed and processed film. [NIH] DES: Diethylstilbestrol. A synthetic hormone that was prescribed from the early 1940s until 1971 to help women with complications of pregnancy. DES has been linked to an increased risk of clear cell carcinoma of the vagina in daughters of women who used DES. DES may also increase the risk of breast cancer in women who used DES. [NIH] Diabetes Mellitus: A heterogeneous group of disorders that share glucose intolerance in common. [NIH] Diagnostic procedure: A method used to identify a disease. [NIH] Dilatation: The act of dilating. [NIH] Diploid: Having two sets of chromosomes. [NIH] Direct: 1. Straight; in a straight line. 2. Performed immediately and without the intervention of subsidiary means. [EU] Discrimination: The act of qualitative and/or quantitative differentiation between two or more stimuli. [NIH] Dissociation: 1. The act of separating or state of being separated. 2. The separation of a molecule into two or more fragments (atoms, molecules, ions, or free radicals) produced by the absorption of light or thermal energy or by solvation. 3. In psychology, a defense mechanism in which a group of mental processes are segregated from the rest of a person's mental activity in order to avoid emotional distress, as in the dissociative disorders (q.v.), or in which an idea or object is segregated from its emotional significance; in the first sense it is roughly equivalent to splitting, in the second, to isolation. 4. A defect of mental integration in which one or more groups of mental processes become separated off from normal consciousness and, thus separated, function as a unitary whole. [EU] Distal: Remote; farther from any point of reference; opposed to proximal. In dentistry, used to designate a position on the dental arch farther from the median line of the jaw. [EU] Dopamine: An endogenous catecholamine and prominent neurotransmitter in several systems of the brain. In the synthesis of catecholamines from tyrosine, it is the immediate precursor to norepinephrine and epinephrine. Dopamine is a major transmitter in the extrapyramidal system of the brain, and important in regulating movement. A family of dopaminergic receptor subtypes mediate its action. Dopamine is used pharmacologically for its direct (beta adrenergic agonist) and indirect (adrenergic releasing) sympathomimetic effects including its actions as an inotropic agent and as a renal vasodilator. [NIH] Dysplasia: Cells that look abnormal under a microscope but are not cancer. [NIH] Dystrophy: Any disorder arising from defective or faulty nutrition, especially the muscular dystrophies. [EU] Electrophoresis: An electrochemical process in which macromolecules or colloidal particles with a net electric charge migrate in a solution under the influence of an electric current. [NIH]

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Embryo: The prenatal stage of mammalian development characterized by rapid morphological changes and the differentiation of basic structures. [NIH] Endocrine Glands: Ductless glands that secrete substances which are released directly into the circulation and which influence metabolism and other body functions. [NIH] Endotoxins: Toxins closely associated with the living cytoplasm or cell wall of certain microorganisms, which do not readily diffuse into the culture medium, but are released upon lysis of the cells. [NIH] End-stage renal: Total chronic kidney failure. When the kidneys fail, the body retains fluid and harmful wastes build up. A person with ESRD needs treatment to replace the work of the failed kidneys. [NIH] Environmental Exposure: The exposure to potentially harmful chemical, physical, or biological agents in the environment or to environmental factors that may include ionizing radiation, pathogenic organisms, or toxic chemicals. [NIH] Environmental Health: The science of controlling or modifying those conditions, influences, or forces surrounding man which relate to promoting, establishing, and maintaining health. [NIH]

Enzymatic: Phase where enzyme cuts the precursor protein. [NIH] Enzyme: A protein that speeds up chemical reactions in the body. [NIH] Eosinophils: Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin. [NIH] Epidemiologic Studies: Studies designed to examine associations, commonly, hypothesized causal relations. They are usually concerned with identifying or measuring the effects of risk factors or exposures. The common types of analytic study are case-control studies, cohort studies, and cross-sectional studies. [NIH] ERV: The expiratory reserve volume is the largest volume of gas that can be expired from the end-expiratory level. [NIH] Erythrocytes: Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing hemoglobin whose function is to transport oxygen. [NIH] Essential Tremor: A rhythmic, involuntary, purposeless, oscillating movement resulting from the alternate contraction and relaxation of opposing groups of muscles. [NIH] Exon: The part of the DNA that encodes the information for the actual amino acid sequence of the protein. In many eucaryotic genes, the coding sequences consist of a series of exons alternating with intron sequences. [NIH] Expiratory: The volume of air which leaves the breathing organs in each expiration. [NIH] Expiratory Reserve Volume: The extra volume of air that can be expired with maximum effort beyond the level reached at the end of a normal, quiet expiration. Common abbreviation is ERV. [NIH] Extracellular: Outside a cell or cells. [EU] Extracellular Matrix: A meshwork-like substance found within the extracellular space and in association with the basement membrane of the cell surface. It promotes cellular proliferation and provides a supporting structure to which cells or cell lysates in culture dishes adhere. [NIH] Family Planning: Programs or services designed to assist the family in controlling reproduction by either improving or diminishing fertility. [NIH] Fat: Total lipids including phospholipids. [NIH]

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Fatty acids: A major component of fats that are used by the body for energy and tissue development. [NIH] Fetal Alcohol Syndrome: A disorder occurring in children born to alcoholic women who continue to drink heavily during pregnancy. Common abnormalities are growth deficiency (prenatal and postnatal), altered morphogenesis, mental deficiency, and characteristic facies - small eyes and flattened nasal bridge. Fine motor dysfunction and tremulousness are observed in the newborn. [NIH] Fetoscopy: Endoscopic examination, therapy or surgery of the fetus and amniotic cavity through abdominal or uterine entry. [NIH] Fetus: The developing offspring from 7 to 8 weeks after conception until birth. [NIH] Fibroblasts: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules. [NIH] Fibrosis: Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury. [NIH] Fluorescence: The property of emitting radiation while being irradiated. The radiation emitted is usually of longer wavelength than that incident or absorbed, e.g., a substance can be irradiated with invisible radiation and emit visible light. X-ray fluorescence is used in diagnosis. [NIH] Founder Effect: The principle that when a small subgroup of a larger population establishes itself as a separate and isolated entity, its gene pool carries only a fraction of the genetic diversity of the parental population. This may result in an increased frequency of certain diseases in the subgroup, especially those diseases known to be autosomal recessive. [NIH] Fractionation: Dividing the total dose of radiation therapy into several smaller, equal doses delivered over a period of several days. [NIH] Frameshift: A type of mutation which causes out-of-phase transcription of the base sequence; such mutations arise from the addition or delection of nucleotide(s) in numbers other than 3 or multiples of 3. [NIH] Frameshift Mutation: A type of mutation in which a number of nucleotides not divisible by three is deleted from or inserted into a coding sequence, thereby causing an alteration in the reading frame of the entire sequence downstream of the mutation. These mutations may be induced by certain types of mutagens or may occur spontaneously. [NIH] Fructose: A type of sugar found in many fruits and vegetables and in honey. Fructose is used to sweeten some diet foods. It is considered a nutritive sweetener because it has calories. [NIH] Fructose Intolerance: An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC 2.1.2.13) activity, resulting in accumulation of fructose-1phosphate. The accumulated fructose-1-phosphate inhibits glycogenolysis and gluconeogenesis, causing severe hypoglycemia following ingestion of fructose. Prolonged fructose ingestion in infants leads ultimately to hepatic failure and death. Patients develop a strong distaste for sweet food, and avoid a chronic course of the disease by remaining on a fructose- and sucrose-free diet. [NIH] Gait: Manner or style of walking. [NIH] Ganglia: Clusters of multipolar neurons surrounded by a capsule of loosely organized connective tissue located outside the central nervous system. [NIH] Ganglioside: Protein kinase C's inhibitor which reduces ischemia-related brain damage. [NIH]

Gas: Air that comes from normal breakdown of food. The gases are passed out of the body

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through the rectum (flatus) or the mouth (burp). [NIH] Gene: The functional and physical unit of heredity passed from parent to offspring. Genes are pieces of DNA, and most genes contain the information for making a specific protein. [NIH]

Gene Amplification: A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication. [NIH] Gene Expression: The phenotypic manifestation of a gene or genes by the processes of gene action. [NIH] Gene Therapy: The introduction of new genes into cells for the purpose of treating disease by restoring or adding gene expression. Techniques include insertion of retroviral vectors, transfection, homologous recombination, and injection of new genes into the nuclei of single cell embryos. The entire gene therapy process may consist of multiple steps. The new genes may be introduced into proliferating cells in vivo (e.g., bone marrow) or in vitro (e.g., fibroblast cultures) and the modified cells transferred to the site where the gene expression is required. Gene therapy may be particularly useful for treating enzyme deficiency diseases, hemoglobinopathies, and leukemias and may also prove useful in restoring drug sensitivity, particularly for leukemia. [NIH] Genetic Screening: Searching a population or individuals for persons possessing certain genotypes or karyotypes that: (1) are already associated with disease or predispose to disease; (2) may lead to disease in their descendants; or (3) produce other variations not known to be associated with disease. Genetic screening may be directed toward identifying phenotypic expression of genetic traits. It includes prenatal genetic screening. [NIH] Genetic testing: Analyzing DNA to look for a genetic alteration that may indicate an increased risk for developing a specific disease or disorder. [NIH] Genetics: The biological science that deals with the phenomena and mechanisms of heredity. [NIH] Genotype: The genetic constitution of the individual; the characterization of the genes. [NIH] Gland: An organ that produces and releases one or more substances for use in the body. Some glands produce fluids that affect tissues or organs. Others produce hormones or participate in blood production. [NIH] Gluconeogenesis: The process by which glucose is formed from a non-carbohydrate source. [NIH]

Glucose: D-Glucose. A primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. It is used therapeutically in fluid and nutrient replacement. [NIH] Glucose Intolerance: A pathological state in which the fasting plasma glucose level is less than 140 mg per deciliter and the 30-, 60-, or 90-minute plasma glucose concentration following a glucose tolerance test exceeds 200 mg per deciliter. This condition is seen frequently in diabetes mellitus but also occurs with other diseases. [NIH] Glycopeptides: Proteins which contain carbohydrate groups attached covalently to the polypeptide chain. The protein moiety is the predominant group with the carbohydrate

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making up only a small percentage of the total weight. [NIH] Glycoproteins: Conjugated protein-carbohydrate compounds including mucins, mucoid, and amyloid glycoproteins. [NIH] Glycosaminoglycan: A type of long, unbranched polysaccharide molecule. Glycosaminoglycans are major structural components of cartilage and are also found in the cornea of the eye. [NIH] Glycosyltransferases: Enzymes that catalyze the transfer of glycosyl groups to an acceptor. Most often another carbohydrate molecule acts as an acceptor, but inorganic phosphate can also act as an acceptor, such as in the case of phosphorylases. Some of the enzymes in this group also catalyze hydrolysis, which can be regarded as transfer of a glycosyl group from the donor to water. Subclasses include the hexosyltransferases, pentosyltransferases, sialyltransferases, and those transferring other glycosyl groups. EC 2.4. [NIH] Gonad: A sex organ, such as an ovary or a testicle, which produces the gametes in most multicellular animals. [NIH] Gonadal: Pertaining to a gonad. [EU] Gonadal Disorders: Disease of the ovaries and testes of any etiology. [NIH] Governing Board: The group in which legal authority is vested for the control of healthrelated institutions and organizations. [NIH] Growth: The progressive development of a living being or part of an organism from its earliest stage to maturity. [NIH] Haemorrhage: The escape of blood from the vessels; bleeding. Small haemorrhages are classified according to size as petechiae (very small), purpura (up to 1 cm), and ecchymoses (larger). The massive accumulation of blood within a tissue is called a haematoma. [EU] Hallucinogens: Drugs capable of inducing illusions, hallucinations, delusions, paranoid ideations, and other alterations of mood and thinking. Despite the name, the feature that distinguishes these agents from other classes of drugs is their capacity to induce states of altered perception, thought, and feeling that are not experienced otherwise. [NIH] Health Education: Education that increases the awareness and favorably influences the attitudes and knowledge relating to the improvement of health on a personal or community basis. [NIH] Hemoglobin: One of the fractions of glycosylated hemoglobin A1c. Glycosylated hemoglobin is formed when linkages of glucose and related monosaccharides bind to hemoglobin A and its concentration represents the average blood glucose level over the previous several weeks. HbA1c levels are used as a measure of long-term control of plasma glucose (normal, 4 to 6 percent). In controlled diabetes mellitus, the concentration of glycosylated hemoglobin A is within the normal range, but in uncontrolled cases the level may be 3 to 4 times the normal conentration. Generally, complications are substantially lower among patients with Hb levels of 7 percent or less than in patients with HbA1c levels of 9 percent or more. [NIH] Hemoglobinopathies: A group of inherited disorders characterized by structural alterations within the hemoglobin molecule. [NIH] Hemoglobinuria: The presence of free hemoglobin in the urine. [NIH] Hepatic: Refers to the liver. [NIH] Hereditary: Of, relating to, or denoting factors that can be transmitted genetically from one generation to another. [NIH] Heredity: 1. The genetic transmission of a particular quality or trait from parent to offspring.

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2. The genetic constitution of an individual. [EU] Heterozygote: An individual having different alleles at one or more loci in homologous chromosome segments. [NIH] Heterozygote Detection: Identification of genetic carriers for a given trait. [NIH] Hexosyltransferases: Enzymes that catalyze the transfer of hexose groups. EC 2.4.1.-. [NIH] Homologous: Corresponding in structure, position, origin, etc., as (a) the feathers of a bird and the scales of a fish, (b) antigen and its specific antibody, (c) allelic chromosomes. [EU] Hormonal: Pertaining to or of the nature of a hormone. [EU] Hormone: A substance in the body that regulates certain organs. Hormones such as gastrin help in breaking down food. Some hormones come from cells in the stomach and small intestine. [NIH] Hybridization: The genetic process of crossbreeding to produce a hybrid. Hybrid nucleic acids can be formed by nucleic acid hybridization of DNA and RNA molecules. Protein hybridization allows for hybrid proteins to be formed from polypeptide chains. [NIH] Hydration: Combining with water. [NIH] Hydrogen: The first chemical element in the periodic table. It has the atomic symbol H, atomic number 1, and atomic weight 1. It exists, under normal conditions, as a colorless, odorless, tasteless, diatomic gas. Hydrogen ions are protons. Besides the common H1 isotope, hydrogen exists as the stable isotope deuterium and the unstable, radioactive isotope tritium. [NIH] Hydrolysis: The process of cleaving a chemical compound by the addition of a molecule of water. [NIH] Hypoglycemia: Abnormally low blood sugar [NIH] Id: The part of the personality structure which harbors the unconscious instinctive desires and strivings of the individual. [NIH] Idiocy: Is the most severe degree of mental defect. [NIH] Immune response: The activity of the immune system against foreign substances (antigens). [NIH]

Immunodeficiency: The decreased ability of the body to fight infection and disease. [NIH] In vitro: In the laboratory (outside the body). The opposite of in vivo (in the body). [NIH] In vivo: In the body. The opposite of in vitro (outside the body or in the laboratory). [NIH] Indicative: That indicates; that points out more or less exactly; that reveals fairly clearly. [EU] Infarction: A pathological process consisting of a sudden insufficient blood supply to an area, which results in necrosis of that area. It is usually caused by a thrombus, an embolus, or a vascular torsion. [NIH] Infection: 1. Invasion and multiplication of microorganisms in body tissues, which may be clinically unapparent or result in local cellular injury due to competitive metabolism, toxins, intracellular replication, or antigen-antibody response. The infection may remain localized, subclinical, and temporary if the body's defensive mechanisms are effective. A local infection may persist and spread by extension to become an acute, subacute, or chronic clinical infection or disease state. A local infection may also become systemic when the microorganisms gain access to the lymphatic or vascular system. 2. An infectious disease. [EU]

Inflammation: A pathological process characterized by injury or destruction of tissues caused by a variety of cytologic and chemical reactions. It is usually manifested by typical

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signs of pain, heat, redness, swelling, and loss of function. [NIH] Ingestion: Taking into the body by mouth [NIH] Inorganic: Pertaining to substances not of organic origin. [EU] Insight: The capacity to understand one's own motives, to be aware of one's own psychodynamics, to appreciate the meaning of symbolic behavior. [NIH] Intermediate Filaments: Cytoplasmic filaments intermediate in diameter (about 10 nanometers) between the microfilaments and the microtubules. They may be composed of any of a number of different proteins and form a ring around the cell nucleus. [NIH] Intestinal: Having to do with the intestines. [NIH] Intoxication: Poisoning, the state of being poisoned. [EU] Intracellular: Inside a cell. [NIH] Involuntary: Reaction occurring without intention or volition. [NIH] Ionization: 1. Any process by which a neutral atom gains or loses electrons, thus acquiring a net charge, as the dissociation of a substance in solution into ions or ion production by the passage of radioactive particles. 2. Iontophoresis. [EU] Ions: An atom or group of atoms that have a positive or negative electric charge due to a gain (negative charge) or loss (positive charge) of one or more electrons. Atoms with a positive charge are known as cations; those with a negative charge are anions. [NIH] Ischemia: Deficiency of blood in a part, due to functional constriction or actual obstruction of a blood vessel. [EU] Isoenzymes: One of various structurally related forms of an enzyme, each having the same mechanism but with differing chemical, physical, or immunological characteristics. [NIH] Isozymes: The multiple forms of a single enzyme. [NIH] Kb: A measure of the length of DNA fragments, 1 Kb = 1000 base pairs. The largest DNA fragments are up to 50 kilobases long. [NIH] Kidney Disease: Any one of several chronic conditions that are caused by damage to the cells of the kidney. People who have had diabetes for a long time may have kidney damage. Also called nephropathy. [NIH] Labile: 1. Gliding; moving from point to point over the surface; unstable; fluctuating. 2. Chemically unstable. [EU] Leukemia: Cancer of blood-forming tissue. [NIH] Leukocytes: White blood cells. These include granular leukocytes (basophils, eosinophils, and neutrophils) as well as non-granular leukocytes (lymphocytes and monocytes). [NIH] Library Services: Services offered to the library user. They include reference and circulation. [NIH]

Ligament: A band of fibrous tissue that connects bones or cartilages, serving to support and strengthen joints. [EU] Linkage: The tendency of two or more genes in the same chromosome to remain together from one generation to the next more frequently than expected according to the law of independent assortment. [NIH] Lipid: Fat. [NIH] Lymphocytes: White blood cells formed in the body's lymphoid tissue. The nucleus is round or ovoid with coarse, irregularly clumped chromatin while the cytoplasm is typically pale blue with azurophilic (if any) granules. Most lymphocytes can be classified as either T or B

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(with subpopulations of each); those with characteristics of neither major class are called null cells. [NIH] Lymphoid: Referring to lymphocytes, a type of white blood cell. Also refers to tissue in which lymphocytes develop. [NIH] Lymphoma: A general term for various neoplastic diseases of the lymphoid tissue. [NIH] Malabsorption: Impaired intestinal absorption of nutrients. [EU] Malignant: Cancerous; a growth with a tendency to invade and destroy nearby tissue and spread to other parts of the body. [NIH] Malnutrition: A condition caused by not eating enough food or not eating a balanced diet. [NIH]

Manifest: Being the part or aspect of a phenomenon that is directly observable : concretely expressed in behaviour. [EU] MEDLINE: An online database of MEDLARS, the computerized bibliographic Medical Literature Analysis and Retrieval System of the National Library of Medicine. [NIH] Melanin: The substance that gives the skin its color. [NIH] Melanocytes: Epidermal dendritic pigment cells which control long-term morphological color changes by alteration in their number or in the amount of pigment they produce and store in the pigment containing organelles called melanosomes. Melanophores are larger cells which do not exist in mammals. [NIH] Melanoma: A form of skin cancer that arises in melanocytes, the cells that produce pigment. Melanoma usually begins in a mole. [NIH] Membrane: A very thin layer of tissue that covers a surface. [NIH] Meninges: The three membranes that cover and protect the brain and spinal cord. [NIH] Mental: Pertaining to the mind; psychic. 2. (L. mentum chin) pertaining to the chin. [EU] Mental deficiency: A condition of arrested or incomplete development of mind from inherent causes or induced by disease or injury. [NIH] Mental Health: The state wherein the person is well adjusted. [NIH] Metabolic disorder: A condition in which normal metabolic processes are disrupted, usually because of a missing enzyme. [NIH] MI: Myocardial infarction. Gross necrosis of the myocardium as a result of interruption of the blood supply to the area; it is almost always caused by atherosclerosis of the coronary arteries, upon which coronary thrombosis is usually superimposed. [NIH] Microbiology: The study of microorganisms such as fungi, bacteria, algae, archaea, and viruses. [NIH] Microfilaments: The smallest of the cytoskeletal filaments. They are composed chiefly of actin. [NIH] Microscopy: The application of microscope magnification to the study of materials that cannot be properly seen by the unaided eye. [NIH] Microtubules: Slender, cylindrical filaments found in the cytoskeleton of plant and animal cells. They are composed of the protein tubulin. [NIH] Midwifery: The practice of assisting women in childbirth. [NIH] Mobility: Capability of movement, of being moved, or of flowing freely. [EU] Mobilization: The process of making a fixed part or stored substance mobile, as by separating a part from surrounding structures to make it accessible for an operative

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procedure or by causing release into the circulation for body use of a substance stored in the body. [EU] Molecular: Of, pertaining to, or composed of molecules : a very small mass of matter. [EU] Molecule: A chemical made up of two or more atoms. The atoms in a molecule can be the same (an oxygen molecule has two oxygen atoms) or different (a water molecule has two hydrogen atoms and one oxygen atom). Biological molecules, such as proteins and DNA, can be made up of many thousands of atoms. [NIH] Monocytes: Large, phagocytic mononuclear leukocytes produced in the vertebrate bone marrow and released into the blood; contain a large, oval or somewhat indented nucleus surrounded by voluminous cytoplasm and numerous organelles. [NIH] Morphogenesis: The development of the form of an organ, part of the body, or organism. [NIH]

Morphological: Relating to the configuration or the structure of live organs. [NIH] Morula: The early embryo at the developmental stage in which the blastomeres, resulting from repeated mitotic divisions of the fertilized ovum, form a compact mass. [NIH] Mucins: A secretion containing mucopolysaccharides and protein that is the chief constituent of mucus. [NIH] Mucopolysaccharidoses: Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency. [NIH] Muscle Fibers: Large single cells, either cylindrical or prismatic in shape, that form the basic unit of muscle tissue. They consist of a soft contractile substance enclosed in a tubular sheath. [NIH] Muscular Atrophy: Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation. [NIH] Muscular Dystrophies: A general term for a group of inherited disorders which are characterized by progressive degeneration of skeletal muscles. [NIH] Mutagens: Chemical agents that increase the rate of genetic mutation by interfering with the function of nucleic acids. A clastogen is a specific mutagen that causes breaks in chromosomes. [NIH] Myocardium: The muscle tissue of the heart composed of striated, involuntary muscle known as cardiac muscle. [NIH] Myotonic Dystrophy: A condition presenting muscle weakness and wasting which may be progressive. [NIH] Need: A state of tension or dissatisfaction felt by an individual that impels him to action toward a goal he believes will satisfy the impulse. [NIH] Neoplasia: Abnormal and uncontrolled cell growth. [NIH] Neoplastic: Pertaining to or like a neoplasm (= any new and abnormal growth); pertaining to neoplasia (= the formation of a neoplasm). [EU] Nephropathy: Disease of the kidneys. [EU] Nerve: A cordlike structure of nervous tissue that connects parts of the nervous system with other tissues of the body and conveys nervous impulses to, or away from, these tissues. [NIH] Nervous System: The entire nerve apparatus composed of the brain, spinal cord, nerves and

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ganglia. [NIH] Neuronal: Pertaining to a neuron or neurons (= conducting cells of the nervous system). [EU] Neurons: The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. [NIH] Neutral Glycosphingolipids: A subclass of glycosphingolipids containing one or more sugars within their head group connected directly to a ceramide moiety. They consist of monoglycosyl-, and oligoglycosylsphingoids and monoglycosyland oligoglycosylceramides. [NIH] Neutrophils: Granular leukocytes having a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes. [NIH] Nuclei: A body of specialized protoplasm found in nearly all cells and containing the chromosomes. [NIH] Nucleus: A body of specialized protoplasm found in nearly all cells and containing the chromosomes. [NIH] Oncogene: A gene that normally directs cell growth. If altered, an oncogene can promote or allow the uncontrolled growth of cancer. Alterations can be inherited or caused by an environmental exposure to carcinogens. [NIH] Optic Nerve: The 2nd cranial nerve. The optic nerve conveys visual information from the retina to the brain. The nerve carries the axons of the retinal ganglion cells which sort at the optic chiasm and continue via the optic tracts to the brain. The largest projection is to the lateral geniculate nuclei; other important targets include the superior colliculi and the suprachiasmatic nuclei. Though known as the second cranial nerve, it is considered part of the central nervous system. [NIH] Osmotic: Pertaining to or of the nature of osmosis (= the passage of pure solvent from a solution of lesser to one of greater solute concentration when the two solutions are separated by a membrane which selectively prevents the passage of solute molecules, but is permeable to the solvent). [EU] Ossification: The formation of bone or of a bony substance; the conversion of fibrous tissue or of cartilage into bone or a bony substance. [EU] Osteogenesis: The histogenesis of bone including ossification. It occurs continuously but particularly in the embryo and child and during fracture repair. [NIH] Osteogenesis Imperfecta: A collagen disorder resulting from defective biosynthesis of type I collagen and characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. There are four major types, I-IV. [NIH] Ovaries: The pair of female reproductive glands in which the ova, or eggs, are formed. The ovaries are located in the pelvis, one on each side of the uterus. [NIH] Ovum: A female germ cell extruded from the ovary at ovulation. [NIH] Oxidation: The act of oxidizing or state of being oxidized. Chemically it consists in the increase of positive charges on an atom or the loss of negative charges. Most biological oxidations are accomplished by the removal of a pair of hydrogen atoms (dehydrogenation) from a molecule. Such oxidations must be accompanied by reduction of an acceptor molecule. Univalent o. indicates loss of one electron; divalent o., the loss of two electrons. [EU]

Pancreas: A mixed exocrine and endocrine gland situated transversely across the posterior

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abdominal wall in the epigastric and hypochondriac regions. The endocrine portion is comprised of the Islets of Langerhans, while the exocrine portion is a compound acinar gland that secretes digestive enzymes. [NIH] Pancreatic: Having to do with the pancreas. [NIH] Pancreatic cancer: Cancer of the pancreas, a salivary gland of the abdomen. [NIH] Parathyroid: 1. Situated beside the thyroid gland. 2. One of the parathyroid glands. 3. A sterile preparation of the water-soluble principle(s) of the parathyroid glands, ad-ministered parenterally as an antihypocalcaemic, especially in the treatment of acute hypoparathyroidism with tetany. [EU] Parathyroid Glands: Two small paired endocrine glands in the region of the thyroid gland. They secrete parathyroid hormone and are concerned with the metabolism of calcium and phosphorus. [NIH] Paroxysmal: Recurring in paroxysms (= spasms or seizures). [EU] Pathologic: 1. Indicative of or caused by a morbid condition. 2. Pertaining to pathology (= branch of medicine that treats the essential nature of the disease, especially the structural and functional changes in tissues and organs of the body caused by the disease). [EU] Pelvic: Pertaining to the pelvis. [EU] Pentosyltransferases: Enzymes of the transferase class that catalyze the transfer of a pentose group from one compound to another. (Dorland, 28th ed) EC 2.4.2. [NIH] Peptide: Any compound consisting of two or more amino acids, the building blocks of proteins. Peptides are combined to make proteins. [NIH] Pharmaceutical Preparations: Drugs intended for human or veterinary use, presented in their finished dosage form. Included here are materials used in the preparation and/or formulation of the finished dosage form. [NIH] Pharmacologic: Pertaining to pharmacology or to the properties and reactions of drugs. [EU] Phenotype: The outward appearance of the individual. It is the product of interactions between genes and between the genotype and the environment. This includes the killer phenotype, characteristic of yeasts. [NIH] Phenylalanine: An aromatic amino acid that is essential in the animal diet. It is a precursor of melanin, dopamine, noradrenalin, and thyroxine. [NIH] Physiologic: Having to do with the functions of the body. When used in the phrase "physiologic age," it refers to an age assigned by general health, as opposed to calendar age. [NIH]

Pilot study: The initial study examining a new method or treatment. [NIH] Placenta: A highly vascular fetal organ through which the fetus absorbs oxygen and other nutrients and excretes carbon dioxide and other wastes. It begins to form about the eighth day of gestation when the blastocyst adheres to the decidua. [NIH] Plants: Multicellular, eukaryotic life forms of the kingdom Plantae. They are characterized by a mainly photosynthetic mode of nutrition; essentially unlimited growth at localized regions of cell divisions (meristems); cellulose within cells providing rigidity; the absence of organs of locomotion; absense of nervous and sensory systems; and an alteration of haploid and diploid generations. [NIH] Plasma: The clear, yellowish, fluid part of the blood that carries the blood cells. The proteins that form blood clots are in plasma. [NIH] Plasma protein: One of the hundreds of different proteins present in blood plasma, including carrier proteins ( such albumin, transferrin, and haptoglobin), fibrinogen and

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other coagulation factors, complement components, immunoglobulins, enzyme inhibitors, precursors of substances such as angiotension and bradykinin, and many other types of proteins. [EU] Plasmid: An autonomously replicating, extra-chromosomal DNA molecule found in many bacteria. Plasmids are widely used as carriers of cloned genes. [NIH] Pneumonia: Inflammation of the lungs. [NIH] Point Mutation: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. [NIH] Polycystic: An inherited disorder characterized by many grape-like clusters of fluid-filled cysts that make both kidneys larger over time. These cysts take over and destroy working kidney tissue. PKD may cause chronic renal failure and end-stage renal disease. [NIH] Polyethylene: A vinyl polymer made from ethylene. It can be branched or linear. Branched or low-density polyethylene is tough and pliable but not to the same degree as linear polyethylene. Linear or high-density polyethylene has a greater hardness and tensile strength. Polyethylene is used in a variety of products, including implants and prostheses. [NIH]

Polymerase: An enzyme which catalyses the synthesis of DNA using a single DNA strand as a template. The polymerase copies the template in the 5'-3'direction provided that sufficient quantities of free nucleotides, dATP and dTTP are present. [NIH] Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships. [NIH] Polysaccharide: A type of carbohydrate. It contains sugar molecules that are linked together chemically. [NIH] Posterior: Situated in back of, or in the back part of, or affecting the back or dorsal surface of the body. In lower animals, it refers to the caudal end of the body. [EU] Postnatal: Occurring after birth, with reference to the newborn. [EU] Practice Guidelines: Directions or principles presenting current or future rules of policy for the health care practitioner to assist him in patient care decisions regarding diagnosis, therapy, or related clinical circumstances. The guidelines may be developed by government agencies at any level, institutions, professional societies, governing boards, or by the convening of expert panels. The guidelines form a basis for the evaluation of all aspects of health care and delivery. [NIH] Precursor: Something that precedes. In biological processes, a substance from which another, usually more active or mature substance is formed. In clinical medicine, a sign or symptom that heralds another. [EU] Prenatal: Existing or occurring before birth, with reference to the fetus. [EU] Prenatal Diagnosis: Determination of the nature of a pathological condition or disease in the postimplantation embryo, fetus, or pregnant female before birth. [NIH] Progression: Increase in the size of a tumor or spread of cancer in the body. [NIH] Progressive: Advancing; going forward; going from bad to worse; increasing in scope or severity. [EU]

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Proportional: Being in proportion : corresponding in size, degree, or intensity, having the same or a constant ratio; of, relating to, or used in determining proportions. [EU] Prospective study: An epidemiologic study in which a group of individuals (a cohort), all free of a particular disease and varying in their exposure to a possible risk factor, is followed over a specific amount of time to determine the incidence rates of the disease in the exposed and unexposed groups. [NIH] Prostate: A gland in males that surrounds the neck of the bladder and the urethra. It secretes a substance that liquifies coagulated semen. It is situated in the pelvic cavity behind the lower part of the pubic symphysis, above the deep layer of the triangular ligament, and rests upon the rectum. [NIH] Protein C: A vitamin-K dependent zymogen present in the blood, which, upon activation by thrombin and thrombomodulin exerts anticoagulant properties by inactivating factors Va and VIIIa at the rate-limiting steps of thrombin formation. [NIH] Protein S: The vitamin K-dependent cofactor of activated protein C. Together with protein C, it inhibits the action of factors VIIIa and Va. A deficiency in protein S can lead to recurrent venous and arterial thrombosis. [NIH] Proteins: Polymers of amino acids linked by peptide bonds. The specific sequence of amino acids determines the shape and function of the protein. [NIH] Psychiatric: Pertaining to or within the purview of psychiatry. [EU] Psychiatry: The medical science that deals with the origin, diagnosis, prevention, and treatment of mental disorders. [NIH] Psychic: Pertaining to the psyche or to the mind; mental. [EU] Psychotropic: Exerting an effect upon the mind; capable of modifying mental activity; usually applied to drugs that effect the mental state. [EU] Psychotropic Drugs: A loosely defined grouping of drugs that have effects on psychological function. Here the psychotropic agents include the antidepressive agents, hallucinogens, and tranquilizing agents (including the antipsychotics and anti-anxiety agents). [NIH] Public Health: Branch of medicine concerned with the prevention and control of disease and disability, and the promotion of physical and mental health of the population on the international, national, state, or municipal level. [NIH] Public Policy: A course or method of action selected, usually by a government, from among alternatives to guide and determine present and future decisions. [NIH] Publishing: "The business or profession of the commercial production and issuance of literature" (Webster's 3d). It includes the publisher, publication processes, editing and editors. Production may be by conventional printing methods or by electronic publishing. [NIH]

Radiation: Emission or propagation of electromagnetic energy (waves/rays), or the waves/rays themselves; a stream of electromagnetic particles (electrons, neutrons, protons, alpha particles) or a mixture of these. The most common source is the sun. [NIH] Radiation therapy: The use of high-energy radiation from x-rays, gamma rays, neutrons, and other sources to kill cancer cells and shrink tumors. Radiation may come from a machine outside the body (external-beam radiation therapy), or it may come from radioactive material placed in the body in the area near cancer cells (internal radiation therapy, implant radiation, or brachytherapy). Systemic radiation therapy uses a radioactive substance, such as a radiolabeled monoclonal antibody, that circulates throughout the body. Also called radiotherapy. [NIH] Radioactive: Giving off radiation. [NIH]

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Radioisotope: An unstable element that releases radiation as it breaks down. Radioisotopes can be used in imaging tests or as a treatment for cancer. [NIH] Radiolabeled: Any compound that has been joined with a radioactive substance. [NIH] Recombination: The formation of new combinations of genes as a result of segregation in crosses between genetically different parents; also the rearrangement of linked genes due to crossing-over. [NIH] Rectum: The last 8 to 10 inches of the large intestine. [NIH] Red Nucleus: A pinkish-yellow portion of the midbrain situated in the rostral mesencephalic tegmentum. It receives a large projection from the contralateral half of the cerebellum via the superior cerebellar peduncle and a projection from the ipsilateral motor cortex. [NIH] Refer: To send or direct for treatment, aid, information, de decision. [NIH] Reliability: Used technically, in a statistical sense, of consistency of a test with itself, i. e. the extent to which we can assume that it will yield the same result if repeated a second time. [NIH]

Retina: The ten-layered nervous tissue membrane of the eye. It is continuous with the optic nerve and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the choroid and the inner surface with the vitreous body. The outer-most layer is pigmented, whereas the inner nine layers are transparent. [NIH] Retinoblastoma: An eye cancer that most often occurs in children younger than 5 years. It occurs in hereditary and nonhereditary (sporadic) forms. [NIH] Retroviral vector: RNA from a virus that is used to insert genetic material into cells. [NIH] Ribosome: A granule of protein and RNA, synthesized in the nucleolus and found in the cytoplasm of cells. Ribosomes are the main sites of protein synthesis. Messenger RNA attaches to them and there receives molecules of transfer RNA bearing amino acids. [NIH] Risk factor: A habit, trait, condition, or genetic alteration that increases a person's chance of developing a disease. [NIH] Saliva: The clear, viscous fluid secreted by the salivary glands and mucous glands of the mouth. It contains mucins, water, organic salts, and ptylin. [NIH] Salivary: The duct that convey saliva to the mouth. [NIH] Salivary glands: Glands in the mouth that produce saliva. [NIH] Schizophrenia: A mental disorder characterized by a special type of disintegration of the personality. [NIH] Sclerae: A circular furrow between the sclerocorneal junction and the iris. [NIH] Sclerosis: A pathological process consisting of hardening or fibrosis of an anatomical structure, often a vessel or a nerve. [NIH] Screening: Checking for disease when there are no symptoms. [NIH] Seizures: Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as epilepsy or "seizure disorder." [NIH] Self-Help Groups: Organizations which provide an environment encouraging social interactions through group activities or individual relationships especially for the purpose of rehabilitating or supporting patients, individuals with common health problems, or the elderly. They include therapeutic social clubs. [NIH]

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Semen: The thick, yellowish-white, viscid fluid secretion of male reproductive organs discharged upon ejaculation. In addition to reproductive organ secretions, it contains spermatozoa and their nutrient plasma. [NIH] Sequencing: The determination of the order of nucleotides in a DNA or RNA chain. [NIH] Serum: The clear liquid part of the blood that remains after blood cells and clotting proteins have been removed. [NIH] Serum Albumin: A major plasma protein that serves in maintaining the plasma colloidal osmotic pressure and transporting large organic anions. [NIH] Sex Determination: The biological characteristics which distinguish human beings as female or male. [NIH] Sialyltransferases: A group of enzymes with the general formula CMP-Nacetylneuraminate:acceptor N-acetylneuraminyl transferase. They catalyze the transfer of Nacetylneuraminic acid from CMP-N-acetylneuraminic acid to an acceptor, which is usually the terminal sugar residue of an oligosaccharide, a glycoprotein, or a glycolipid. EC 2.4.99.-. [NIH]

Side effect: A consequence other than the one(s) for which an agent or measure is used, as the adverse effects produced by a drug, especially on a tissue or organ system other than the one sought to be benefited by its administration. [EU] Small intestine: The part of the digestive tract that is located between the stomach and the large intestine. [NIH] Somatic: 1. Pertaining to or characteristic of the soma or body. 2. Pertaining to the body wall in contrast to the viscera. [EU] Somatic cells: All the body cells except the reproductive (germ) cells. [NIH] Specialist: In medicine, one who concentrates on 1 special branch of medical science. [NIH] Specificity: Degree of selectivity shown by an antibody with respect to the number and types of antigens with which the antibody combines, as well as with respect to the rates and the extents of these reactions. [NIH] Spectrum: A charted band of wavelengths of electromagnetic vibrations obtained by refraction and diffraction. By extension, a measurable range of activity, such as the range of bacteria affected by an antibiotic (antibacterial s.) or the complete range of manifestations of a disease. [EU] Sperm: The fecundating fluid of the male. [NIH] Spinal cord: The main trunk or bundle of nerves running down the spine through holes in the spinal bone (the vertebrae) from the brain to the level of the lower back. [NIH] Sporadic: Neither endemic nor epidemic; occurring occasionally in a random or isolated manner. [EU] Sterile: Unable to produce children. [NIH] Stool: The waste matter discharged in a bowel movement; feces. [NIH] Strand: DNA normally exists in the bacterial nucleus in a helix, in which two strands are coiled together. [NIH] Stromal: Large, veil-like cell in the bone marrow. [NIH] Subclinical: Without clinical manifestations; said of the early stage(s) of an infection or other disease or abnormality before symptoms and signs become apparent or detectable by clinical examination or laboratory tests, or of a very mild form of an infection or other disease or abnormality. [EU]

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Substrate: A substance upon which an enzyme acts. [EU] Support group: A group of people with similar disease who meet to discuss how better to cope with their cancer and treatment. [NIH] Symphysis: A secondary cartilaginous joint. [NIH] Telangiectasia: The permanent enlargement of blood vessels, causing redness in the skin or mucous membranes. [NIH] Terminator: A DNA sequence sited at the end of a transcriptional unit that signals the end of transcription. [NIH] Tetany: 1. Hyperexcitability of nerves and muscles due to decrease in concentration of extracellular ionized calcium, which may be associated with such conditions as parathyroid hypofunction, vitamin D deficiency, and alkalosis or result from ingestion of alkaline salts; it is characterized by carpopedal spasm, muscular twitching and cramps, laryngospasm with inspiratory stridor, hyperreflexia and choreiform movements. 2. Tetanus. [EU] Thalamic: Cell that reaches the lateral nucleus of amygdala. [NIH] Thalamic Diseases: Disorders of the centrally located thalamus, which integrates a wide range of cortical and subcortical information. Manifestations include sensory loss, movement disorders; ataxia, pain syndromes, visual disorders, a variety of neuropsychological conditions, and coma. Relatively common etiologies include cerebrovascular disorders; craniocerebral trauma; brain neoplasms; brain hypoxia; intracranial hemorrhages; and infectious processes. [NIH] Thermal: Pertaining to or characterized by heat. [EU] Thrombosis: The formation or presence of a blood clot inside a blood vessel. [NIH] Thyroid: A gland located near the windpipe (trachea) that produces thyroid hormone, which helps regulate growth and metabolism. [NIH] Thyroid Gland: A highly vascular endocrine gland consisting of two lobes, one on either side of the trachea, joined by a narrow isthmus; it produces the thyroid hormones which are concerned in regulating the metabolic rate of the body. [NIH] Thyroxine: An amino acid of the thyroid gland which exerts a stimulating effect on thyroid metabolism. [NIH] Tissue: A group or layer of cells that are alike in type and work together to perform a specific function. [NIH] Tissue Culture: Maintaining or growing of tissue, organ primordia, or the whole or part of an organ in vitro so as to preserve its architecture and/or function (Dorland, 28th ed). Tissue culture includes both organ culture and cell culture. [NIH] Tone: 1. The normal degree of vigour and tension; in muscle, the resistance to passive elongation or stretch; tonus. 2. A particular quality of sound or of voice. 3. To make permanent, or to change, the colour of silver stain by chemical treatment, usually with a heavy metal. [EU] Tonus: A state of slight tension usually present in muscles even when they are not undergoing active contraction. [NIH] Toxic: Having to do with poison or something harmful to the body. Toxic substances usually cause unwanted side effects. [NIH] Toxicology: The science concerned with the detection, chemical composition, and pharmacologic action of toxic substances or poisons and the treatment and prevention of toxic manifestations. [NIH] Tracer: A substance (such as a radioisotope) used in imaging procedures. [NIH]

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Trachea: The cartilaginous and membranous tube descending from the larynx and branching into the right and left main bronchi. [NIH] Tranquilizing Agents: A traditional grouping of drugs said to have a soothing or calming effect on mood, thought, or behavior. Included here are the anti-anxiety agents (minor tranquilizers), antimanic agents, and the antipsychotic agents (major tranquilizers). These drugs act by different mechanisms and are used for different therapeutic purposes. [NIH] Transfection: The uptake of naked or purified DNA into cells, usually eukaryotic. It is analogous to bacterial transformation. [NIH] Translation: The process whereby the genetic information present in the linear sequence of ribonucleotides in mRNA is converted into a corresponding sequence of amino acids in a protein. It occurs on the ribosome and is unidirectional. [NIH] Transversion: A base-pair substitution mutation in which a purine-pyrimidine pair is replaced by the equivalent pyrimidine-purine pair, i. e. A-T becomes T-A. [NIH] Tremor: Cyclical movement of a body part that can represent either a physiologic process or a manifestation of disease. Intention or action tremor, a common manifestation of cerebellar diseases, is aggravated by movement. In contrast, resting tremor is maximal when there is no attempt at voluntary movement, and occurs as a relatively frequent manifestation of Parkinson disease. [NIH] Tuberous Sclerosis: A rare congenital disease in which the essential pathology is the appearance of multiple tumors in the cerebrum and in other organs, such as the heart or kidneys. [NIH] Unconscious: Experience which was once conscious, but was subsequently rejected, as the "personal unconscious". [NIH] Urethra: The tube through which urine leaves the body. It empties urine from the bladder. [NIH]

Urine: Fluid containing water and waste products. Urine is made by the kidneys, stored in the bladder, and leaves the body through the urethra. [NIH] Uterine Contraction: Contraction of the uterine muscle. [NIH] Uterus: The small, hollow, pear-shaped organ in a woman's pelvis. This is the organ in which a fetus develops. Also called the womb. [NIH] Vaccines: Suspensions of killed or attenuated microorganisms (bacteria, viruses, fungi, protozoa, or rickettsiae), antigenic proteins derived from them, or synthetic constructs, administered for the prevention, amelioration, or treatment of infectious and other diseases. [NIH]

Vagina: The muscular canal extending from the uterus to the exterior of the body. Also called the birth canal. [NIH] Vascular: Pertaining to blood vessels or indicative of a copious blood supply. [EU] Venous: Of or pertaining to the veins. [EU] Vestibular: Pertaining to or toward a vestibule. In dental anatomy, used to refer to the tooth surface directed toward the vestibule of the mouth. [EU] Vestibule: A small, oval, bony chamber of the labyrinth. The vestibule contains the utricle and saccule, organs which are part of the balancing apparatus of the ear. [NIH] Veterinary Medicine: The medical science concerned with the prevention, diagnosis, and treatment of diseases in animals. [NIH] Villi: The tiny, fingerlike projections on the surface of the small intestine. Villi help absorb nutrients. [NIH]

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Villus: Cell found in the lining of the small intestine. [NIH] Vimentin: An intermediate filament protein found in most differentiating cells, in cells grown in tissue culture, and in certain fully differentiated cells. Its insolubility suggests that it serves a structural function in the cytoplasm. MW 52,000. [NIH] Virus: Submicroscopic organism that causes infectious disease. In cancer therapy, some viruses may be made into vaccines that help the body build an immune response to, and kill, tumor cells. [NIH] Visceral: , from viscus a viscus) pertaining to a viscus. [EU] Vitreous: Glasslike or hyaline; often used alone to designate the vitreous body of the eye (corpus vitreum). [EU] Vitreous Body: The transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina. It is contained in a thin hyoid membrane and forms about four fifths of the optic globe. [NIH] Vitro: Descriptive of an event or enzyme reaction under experimental investigation occurring outside a living organism. Parts of an organism or microorganism are used together with artificial substrates and/or conditions. [NIH] White blood cell: A type of cell in the immune system that helps the body fight infection and disease. White blood cells include lymphocytes, granulocytes, macrophages, and others. [NIH]

Windpipe: A rigid tube, 10 cm long, extending from the cricoid cartilage to the upper border of the fifth thoracic vertebra. [NIH] Wrongful Life: In civil law a cause of action which alleges that a defendant has wrongfully caused a child to be born. [NIH] Yeasts: A general term for single-celled rounded fungi that reproduce by budding. Brewers' and bakers' yeasts are Saccharomyces cerevisiae; therapeutic dried yeast is dried yeast. [NIH]

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INDEX A Abdomen, 93, 110 Abdominal, 93, 102, 110 Abortion, 35, 93 Acceptor, 8, 45, 93, 104, 109, 114 Acetylgalactosamine, 16, 93 Acetylglucosamine, 16, 93 Acrylamide, 25, 93 Acrylonitrile, 93 Algorithms, 93, 96 Alleles, 29, 46, 93, 105 Alternative medicine, 53, 56, 64, 93 Amino acid, 93, 94, 95, 98, 101, 110, 112, 113, 115, 116 Amino Acid Sequence, 93, 101 Amniocentesis, 27, 53, 94, 97 Amnion, 94 Amniotic Fluid, 7, 16, 34, 35, 38, 94 Amplification, 39, 54, 94 Amyloid, 94, 104 Anal, 94, 101 Anatomical, 94, 113 Anemia, 75, 94 Angiography, 13, 94 Anions, 94, 106, 114 Annealing, 94, 111 Anti-Anxiety Agents, 94, 112, 116 Antibody, 94, 98, 105, 112, 114 Antidepressive Agents, 94, 112 Antigens, 94, 105, 114 Anus, 94, 98 Aqueous, 94, 95, 99 Arginine, 9, 50, 94 Aromatic, 94, 110 Arterial, 94, 97, 112 Arteries, 94, 95, 96, 99, 107 Aspartate, 6, 95 Aspiration, 20, 95 Assay, 6, 16, 36, 54, 95 Ataxia, 27, 74, 75, 89, 95, 97, 115 Atrophy, 74, 75, 95 Atypical, 34, 42, 95 Auditory, 11, 61, 95 Autopsy, 10, 24, 95 Axonal, 10, 95 B Bacteria, 95, 97, 107, 111, 114, 116 Basal Ganglia, 95

Basal Ganglia Diseases, 95 Base, 20, 95, 100, 102, 106, 111, 116 Base Sequence, 95, 102 Basophils, 95, 106 Biochemical, 4, 5, 8, 9, 15, 16, 18, 19, 22, 26, 31, 32, 41, 45, 50, 93, 95 Biopsy, 34, 90, 95 Biotechnology, 4, 5, 64, 71, 73, 74, 75, 76, 95 Bladder, 96, 112, 116 Blastomeres, 39, 96, 108 Blood vessel, 94, 96, 106, 115, 116 Bone Marrow, 96, 103, 108, 114 Branch, 87, 96, 110, 112, 114 C Carbohydrate, 23, 96, 103, 104, 111 Carcinogens, 96, 109 Case report, 20, 31, 43, 50, 96 Catabolism, 4, 96 Causal, 96, 101 Cell, 5, 74, 75 Cell Division, 74, 95, 96, 110 Cell Fusion, 27, 96 Cellobiose, 96 Cellulose, 39, 96, 110 Central Nervous System, 10, 25, 61, 96, 102, 109 Ceramide, 12, 96, 109 Cerebellar, 23, 95, 96, 97, 113, 116 Cerebellar Diseases, 95, 97, 116 Cerebellum, 96, 97, 113 Cerebral, 9, 13, 40, 95, 97 Cerebral Cortex, 95, 97 Cerebral hemispheres, 95, 97 Cerebrum, 17, 97, 116 Cervix, 93, 97 Cholesterol, 20, 97 Cholesterol Esters, 20, 97 Chorion, 97 Chorionic Villi, 34, 47, 50, 97 Chorionic Villi Sampling, 34, 97 Choroid, 97, 113 Chromosomal, 94, 97, 111 Chromosome, 10, 97, 103, 105, 106 Chronic, 24, 42, 74, 97, 101, 102, 105, 106, 111 Chronic renal, 97, 111 Clear cell carcinoma, 97, 100

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Clinical Medicine, 97, 111 Clinical trial, 3, 71, 97 Cloning, 96, 98 Codon, 6, 98 Cofactor, 98, 112 Cohort Studies, 98, 101 Collagen, 93, 98, 102, 109 Colloidal, 98, 100, 114 Colon, 74, 98 Complement, 98, 99, 111 Complementary and alternative medicine, 53, 56, 98 Complementary medicine, 53, 99 Complementation, 27, 99 Computational Biology, 71, 73, 99 Conception, 93, 99, 102 Connective Tissue, 96, 98, 99, 102 Contamination, 24, 99 Contraindications, ii, 99 Contrast medium, 94, 99 Cornea, 99, 104 Coronary, 99, 107 Coronary Thrombosis, 99, 107 Cortex, 99, 113 Cortical, 18, 99, 113, 115 Cross-Sectional Studies, 99, 101 Cultured cells, 17, 99 Cytoplasm, 95, 99, 101, 106, 108, 109, 113, 117 D Databases, Bibliographic, 71, 100 Deletion, 5, 42, 44, 100 Denaturation, 100, 111 Density, 100, 111 DES, 29, 100 Diabetes Mellitus, 61, 100, 103, 104 Diagnostic procedure, 64, 100 Dilatation, 93, 100 Diploid, 99, 100, 110 Direct, iii, 16, 18, 20, 97, 100, 113 Discrimination, 12, 100 Dissociation, 100, 106 Distal, 95, 100 Dopamine, 100, 110 Dysplasia, 75, 100 Dystrophy, 60, 74, 78, 100 E Electrophoresis, 18, 25, 39, 93, 100 Embryo, 34, 93, 94, 96, 101, 108, 109, 111 Endocrine Glands, 47, 101, 110 Endotoxins, 4, 98, 101 End-stage renal, 97, 101, 111

Environmental Exposure, 101, 109 Environmental Health, 70, 72, 101 Enzymatic, 21, 44, 93, 98, 101, 111 Enzyme, 4, 12, 14, 19, 25, 37, 54, 91, 101, 103, 106, 107, 108, 111, 115, 117 Eosinophils, 101, 106 Epidemiologic Studies, 17, 101 ERV, 72, 101 Erythrocytes, 94, 96, 101 Essential Tremor, 74, 101 Exon, 6, 7, 8, 9, 101 Expiratory, 101 Expiratory Reserve Volume, 101 Extracellular, 94, 99, 101, 102, 115 Extracellular Matrix, 99, 101, 102 F Family Planning, 71, 101 Fat, 96, 101, 106 Fatty acids, 20, 102 Fetal Alcohol Syndrome, 60, 102 Fetoscopy, 16, 102 Fetus, 25, 93, 102, 110, 111, 116 Fibroblasts, 5, 20, 40, 102 Fibrosis, 6, 7, 13, 75, 102, 113 Fluorescence, 31, 102 Founder Effect, 15, 102 Fractionation, 11, 102 Frameshift, 6, 102 Frameshift Mutation, 6, 102 Fructose, 39, 102 Fructose Intolerance, 39, 102 G Gait, 90, 97, 102 Ganglia, 40, 95, 102, 109 Ganglioside, 10, 15, 20, 22, 23, 25, 40, 102 Gas, 101, 102, 105 Gene, 5, 7, 8, 9, 11, 17, 20, 21, 24, 32, 34, 37, 39, 40, 41, 44, 45, 75, 76, 93, 96, 102, 103, 109 Gene Amplification, 34, 103 Gene Expression, 75, 103 Gene Therapy, 9, 103 Genetic Screening, 6, 10, 18, 23, 33, 40, 55, 103 Genetic testing, 103, 111 Genetics, 50, 55, 60 Genotype, 10, 103, 110 Gland, 103, 109, 110, 112, 115 Gluconeogenesis, 102, 103 Glucose, 74, 96, 100, 103, 104 Glucose Intolerance, 100, 103 Glycopeptides, 23, 103

121

Glycoproteins, 3, 23, 104 Glycosaminoglycan, 25, 104 Glycosyltransferases, 17, 104 Gonad, 104 Gonadal, 61, 104 Gonadal Disorders, 61, 104 Governing Board, 104, 111 Growth, 74, 102, 104, 107, 108, 109, 110, 115 H Haemorrhage, 93, 104 Hallucinogens, 104, 112 Health Education, 79, 104 Hemoglobin, 94, 101, 104 Hemoglobinopathies, 103, 104 Hemoglobinuria, 74, 104 Hepatic, 102, 104 Hereditary, 61, 104, 113 Heredity, 61, 103, 104 Heterozygote, 11, 24, 37, 42, 50, 105 Heterozygote Detection, 37, 42, 50, 105 Hexosyltransferases, 104, 105 Homologous, 93, 103, 105 Hormonal, 95, 105 Hormone, 100, 105, 110, 115 Hybridization, 96, 105 Hydration, 93, 105 Hydrogen, 93, 95, 96, 100, 105, 108, 109 Hydrolysis, 4, 96, 104, 105 Hypoglycemia, 102, 105 I Id, 51, 55, 74, 80, 86, 88, 105 Idiocy, 13, 89, 105 Immune response, 105, 117 Immunodeficiency, 74, 105 In vitro, 29, 96, 103, 105, 111, 115 In vivo, 96, 103, 105 Indicative, 60, 105, 110, 116 Infarction, 99, 105, 107 Infection, 105, 114, 117 Inflammation, 102, 105, 111 Ingestion, 102, 106, 115 Inorganic, 104, 106 Insight, 11, 106 Intermediate Filaments, 20, 106 Intestinal, 106, 107 Intoxication, 24, 106 Intracellular, 6, 29, 105, 106 Involuntary, 95, 101, 106, 108 Ionization, 29, 106 Ions, 95, 100, 105, 106 Ischemia, 95, 102, 106

Isoenzymes, 11, 39, 106 Isozymes, 12, 106 K Kb, 70, 106 Kidney Disease, 70, 75, 106 L Labile, 34, 98, 106 Leukemia, 74, 103, 106 Leukocytes, 16, 39, 95, 96, 101, 106, 108, 109 Library Services, 86, 106 Ligament, 106, 112 Linkage, 4, 96, 106 Lipid, 9, 12, 19, 29, 106 Lymphocytes, 106, 107, 117 Lymphoid, 30, 106, 107 Lymphoma, 74, 107 M Malabsorption, 74, 107 Malignant, 74, 107 Malnutrition, 95, 107, 108 Manifest, 95, 107 MEDLINE, 71, 73, 75, 107 Melanin, 107, 110 Melanocytes, 107 Melanoma, 74, 107 Membrane, 94, 97, 98, 101, 107, 109, 113, 117 Meninges, 96, 107 Mental, iv, 3, 29, 70, 72, 76, 97, 100, 102, 105, 107, 112, 113 Mental deficiency, 102, 107 Mental Health, iv, 3, 70, 72, 107, 112 Metabolic disorder, 61, 107 MI, 91, 107 Microbiology, 95, 107 Microfilaments, 106, 107 Microscopy, 93, 107 Microtubules, 106, 107 Midwifery, 59, 107 Mobility, 18, 107 Mobilization, 19, 107 Molecular, 4, 7, 9, 11, 14, 15, 29, 30, 31, 43, 44, 45, 50, 71, 73, 95, 99, 108 Molecule, 95, 98, 100, 103, 104, 105, 108, 109, 111 Monocytes, 106, 108 Morphogenesis, 102, 108 Morphological, 19, 40, 101, 107, 108 Morula, 96, 108 Mucins, 104, 108, 113 Mucopolysaccharidoses, 61, 108

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Tay-Sachs disease

Muscle Fibers, 108 Muscular Atrophy, 74, 108 Muscular Dystrophies, 100, 108 Mutagens, 102, 108 Myocardium, 107, 108 Myotonic Dystrophy, 74, 108 N Need, 59, 60, 81, 97, 108 Neoplasia, 74, 108 Neoplastic, 107, 108 Nephropathy, 106, 108 Nerve, 95, 108, 109, 113 Nervous System, 61, 74, 96, 108, 109 Neuronal, 47, 109 Neurons, 102, 109 Neutral Glycosphingolipids, 22, 109 Neutrophils, 106, 109 Nuclei, 103, 109 Nucleus, 95, 99, 101, 106, 108, 109, 114, 115 O Oncogene, 74, 109 Optic Nerve, 109, 113 Osmotic, 109, 114 Ossification, 109 Osteogenesis, 60, 109 Osteogenesis Imperfecta, 60, 109 Ovaries, 104, 109 Ovum, 96, 108, 109 Oxidation, 93, 109 P Pancreas, 93, 109, 110 Pancreatic, 74, 110 Pancreatic cancer, 74, 110 Parathyroid, 61, 110, 115 Parathyroid Glands, 110 Paroxysmal, 74, 110 Pathologic, 5, 41, 95, 99, 110 Pelvic, 110, 112 Pentosyltransferases, 104, 110 Peptide, 93, 110, 112 Pharmaceutical Preparations, 96, 110 Pharmacologic, 110, 115 Phenotype, 9, 99, 110 Phenylalanine, 42, 110 Physiologic, 110, 116 Pilot study, 46, 110 Placenta, 97, 110 Plants, 103, 110 Plasma, 97, 103, 104, 110, 114 Plasma protein, 110, 114 Plasmid, 103, 111 Pneumonia, 99, 111

Point Mutation, 7, 111 Polycystic, 75, 111 Polyethylene, 27, 111 Polymerase, 34, 111 Polymerase Chain Reaction, 34, 111 Polysaccharide, 96, 104, 111 Posterior, 94, 95, 97, 109, 111 Postnatal, 11, 102, 111 Practice Guidelines, 72, 111 Precursor, 5, 40, 100, 101, 110, 111 Prenatal, 7, 13, 20, 21, 28, 33, 34, 35, 40, 44, 47, 50, 54, 91, 101, 102, 103, 111 Prenatal Diagnosis, 7, 13, 20, 21, 33, 34, 44, 47, 50, 111 Progression, 43, 111 Progressive, 97, 104, 108, 111 Proportional, 103, 112 Prospective study, 23, 112 Prostate, 74, 112 Protein C, 93, 98, 112 Protein S, 75, 96, 112, 113 Proteins, 4, 40, 93, 94, 98, 103, 105, 106, 108, 110, 112, 114, 116 Psychiatric, 8, 14, 112 Psychiatry, 27, 50, 112 Psychic, 107, 112, 113 Psychotropic, 14, 112 Psychotropic Drugs, 14, 112 Public Health, 43, 72, 79, 112 Public Policy, 71, 112 Publishing, 4, 59, 112 R Radiation, 101, 102, 112, 113 Radiation therapy, 102, 112 Radioactive, 105, 106, 112, 113 Radioisotope, 113, 115 Radiolabeled, 16, 112, 113 Recombination, 103, 113 Rectum, 94, 98, 103, 112, 113 Red Nucleus, 95, 113 Refer, 1, 98, 113, 116 Reliability, 35, 113 Retina, 33, 97, 109, 113, 117 Retinoblastoma, 74, 113 Retroviral vector, 103, 113 Ribosome, 113, 116 Risk factor, 101, 112, 113 S Saliva, 24, 113 Salivary, 110, 113 Salivary glands, 113 Schizophrenia, 27, 113

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Sclerae, 109, 113 Sclerosis, 74, 75, 113 Screening, 53, 54, 55, 78 Seizures, 90, 110, 113 Self-Help Groups, 60, 113 Semen, 112, 114 Sequencing, 111, 114 Serum, 11, 12, 16, 24, 36, 39, 98, 114 Serum Albumin, 12, 24, 114 Sex Determination, 75, 114 Sialyltransferases, 104, 114 Side effect, 114, 115 Small intestine, 105, 114, 116, 117 Somatic, 96, 114 Somatic cells, 96, 114 Specialist, 80, 114 Specificity, 4, 40, 114 Spectrum, 108, 114 Sperm, 97, 114 Spinal cord, 96, 97, 107, 108, 114 Sporadic, 113, 114 Sterile, 110, 114 Stool, 98, 114 Strand, 111, 114 Stromal, 40, 114 Subclinical, 105, 113, 114 Substrate, 16, 20, 50, 115 Support group, 91, 115 Symphysis, 112, 115 T Telangiectasia, 75, 115 Terminator, 98, 115 Tetany, 110, 115 Thalamic, 95, 115 Thalamic Diseases, 95, 115 Thermal, 11, 100, 111, 115 Thrombosis, 112, 115 Thyroid, 61, 110, 115 Thyroid Gland, 110, 115 Thyroxine, 110, 115 Tissue, 95, 96, 99, 102, 104, 106, 107, 108, 109, 111, 113, 114, 115, 117

Tissue Culture, 115, 117 Tone, 90, 115 Tonus, 115 Toxic, iv, 101, 115 Toxicology, 72, 115 Tracer, 36, 115 Trachea, 115, 116 Tranquilizing Agents, 112, 116 Transfection, 96, 103, 116 Translation, 5, 40, 93, 116 Transversion, 6, 45, 116 Tremor, 74, 116 Tuberous Sclerosis, 75, 116 U Unconscious, 105, 116 Urethra, 112, 116 Urine, 96, 104, 116 Uterine Contraction, 93, 116 Uterus, 93, 94, 97, 109, 116 V Vaccines, 116, 117 Vagina, 97, 100, 116 Vascular, 97, 105, 110, 115, 116 Venous, 112, 116 Vestibular, 61, 116 Vestibule, 116 Veterinary Medicine, 71, 116 Villi, 50, 97, 116 Villus, 34, 117 Vimentin, 20, 117 Virus, 30, 113, 117 Visceral, 13, 15, 29, 117 Vitreous, 113, 117 Vitreous Body, 113, 117 Vitro, 117 W White blood cell, 94, 106, 107, 117 Windpipe, 115, 117 Wrongful Life, 43, 117 Y Yeasts, 110, 117

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