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

GAUCHER 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., 1960Gaucher 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: 0-497-00449-6 1. Gaucher 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 Gaucher 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 GAUCHER DISEASE ................................................................................... 3 Overview........................................................................................................................................ 3 The Combined Health Information Database................................................................................. 3 Federally Funded Research on Gaucher Disease............................................................................ 4 E-Journals: PubMed Central ......................................................................................................... 9 The National Library of Medicine: PubMed ................................................................................ 10 CHAPTER 2. NUTRITION AND GAUCHER DISEASE ......................................................................... 57 Overview...................................................................................................................................... 57 Finding Nutrition Studies on Gaucher Disease........................................................................... 57 Federal Resources on Nutrition ................................................................................................... 58 Additional Web Resources ........................................................................................................... 59 CHAPTER 3. ALTERNATIVE MEDICINE AND GAUCHER DISEASE ................................................... 61 Overview...................................................................................................................................... 61 National Center for Complementary and Alternative Medicine.................................................. 61 Additional Web Resources ........................................................................................................... 63 General References ....................................................................................................................... 63 CHAPTER 4. PATENTS ON GAUCHER DISEASE................................................................................ 65 Overview...................................................................................................................................... 65 Patents on Gaucher Disease......................................................................................................... 65 Patent Applications on Gaucher Disease ..................................................................................... 68 Keeping Current .......................................................................................................................... 72 CHAPTER 5. BOOKS ON GAUCHER DISEASE ................................................................................... 73 Overview...................................................................................................................................... 73 Book Summaries: Federal Agencies.............................................................................................. 73 Chapters on Gaucher Disease....................................................................................................... 74 CHAPTER 6. PERIODICALS AND NEWS ON GAUCHER DISEASE ..................................................... 75 Overview...................................................................................................................................... 75 News Services and Press Releases................................................................................................ 75 Academic Periodicals covering Gaucher Disease ......................................................................... 77 CHAPTER 7. RESEARCHING MEDICATIONS .................................................................................... 79 Overview...................................................................................................................................... 79 U.S. Pharmacopeia....................................................................................................................... 79 Commercial Databases ................................................................................................................. 80 Researching Orphan Drugs ......................................................................................................... 80 APPENDIX A. PHYSICIAN RESOURCES ............................................................................................ 85 Overview...................................................................................................................................... 85 NIH Guidelines............................................................................................................................ 85 NIH Databases............................................................................................................................. 87 Other Commercial Databases....................................................................................................... 89 APPENDIX B. PATIENT RESOURCES ................................................................................................. 91 Overview...................................................................................................................................... 91 Patient Guideline Sources............................................................................................................ 91 Finding Associations.................................................................................................................... 93 APPENDIX C. FINDING MEDICAL LIBRARIES .................................................................................. 95 Overview...................................................................................................................................... 95 Preparation................................................................................................................................... 95 Finding a Local Medical Library.................................................................................................. 95 Medical Libraries in the U.S. and Canada ................................................................................... 95

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ONLINE GLOSSARIES................................................................................................................ 101 Online Dictionary Directories ................................................................................................... 102 GAUCHER DISEASE DICTIONARY........................................................................................ 105 INDEX .............................................................................................................................................. 137

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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 Gaucher 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 Gaucher 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 Gaucher 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 Gaucher 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 Gaucher 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 Gaucher 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 GAUCHER DISEASE Overview In this chapter, we will show you how to locate peer-reviewed references and studies on Gaucher disease.

The Combined Health Information Database The Combined Health Information Database summarizes studies across numerous federal agencies. To limit your investigation to research studies and Gaucher disease, you will need to use the advanced search options. First, go to http://chid.nih.gov/index.html. From there, select the “Detailed Search” option (or go directly to that page with the following hyperlink: http://chid.nih.gov/detail/detail.html). The trick in extracting studies is found in 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 “Journal Article.” At the top of the search form, select the number of records you would like to see (we recommend 100) and check the box to display “whole records.” We recommend that you type “Gaucher disease” (or synonyms) into the “For these words:” box. Consider using the option “anywhere in record” to make your search as broad as possible. If you want to limit the search to only a particular field, such as the title of the journal, then select this option in the “Search in these fields” drop box. The following is what you can expect from this type of search: •

Nature and Extent of Jaw Involvement in Gaucher's Disease: Observations in a Series of 28 Patients Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, Oral Endodontics. 85(2): 233-239. February 1998. Summary: This article outlines the nature and extent of jaw involvement in Gaucher disease. The authors report on a study undertaken to ascertain the nature and extent of mandibulo-maxillofacial pathosis in 28 patients with documented Gaucher disease by means of panoramic radiography. Twenty-five of 28 patients displayed radiographic evidence of jaw involvement. The most prevalent finding was gross widening of the marrow spaces; frank radiolucencies, endosteal scalloping, cortical thinning, root resorption, and inferior displacement of the mandibular canal or effacement of its cortices were also seen. A previously unreported finding was delayed eruption of

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permanent teeth, which was seen in more than half of the patients who were under 20 years of age. The authors conclude that osseous changes throughout the jaws may be more common than previously suspected and may alert the dentist to the presence of the disease. 4 figures. 2 tables. 25 references. (AA-M).

Federally Funded Research on Gaucher Disease The U.S. Government supports a variety of research studies relating to Gaucher 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 Gaucher 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 Gaucher disease. The following is typical of the type of information found when searching the CRISP database for Gaucher disease: •

Project Title: A MOUSE MODEL OF GAUCHER DISEASE Principal Investigator & Institution: Beutler, Ernest N.; Chairman; Scripps Research Institute Tpc7 La Jolla, Ca 92037 Timing: Fiscal Year 2003; Project Start 01-APR-2003; Project End 31-JAN-2006 Summary: (provided by applicant): An animal model of Gaucher disease could be of great value in studying treatment strategies and some features of the pathogenesis of the disease. However, attempts to create such a model have been unsuccessful. The knockout mouse proved to be lethal at about the time of birth. We have now created a murine model of Gaucher disease by creating a chimeric mouse, transplanting wildtype mice with liver-derived hematopoietic stem cells from knockout fetuses. The peripheral blood and spleen from these animals is deficient in glucocerebrosidase activity and the amount of glucocerebroside in the liver and spleen is increased. Moreover, intravenous loading of the animals with glucocerebroside/albumin given intravenously increases the glucocerebroside levels further. We propose to further exploit this model by studying the natural history of glucocerebroside accumulation and by attempting to load these animals in a more convenient and possibly more physiologic manner. Such loading techniques might consist of intraperitoneal injection of glucocerebroside or the increase of blood cell turnover by the administration of G-CSF or phenylhydrazine. A "readout" that is more facile than chemical determination of glucocerebroside by HPLC will also be explored. In particular, electron microscopy and light microscopy will be used to attempt to demonstrate the development of Gaucher cells in the chimeric mice. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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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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Project Title: ANTIRESORPTIVE THERAPY FOR OSTEOPENIA IN GAUCHER DISEASE Principal Investigator & Institution: Wenstrup, Richard J.; Professor; Children's Hospital Med Ctr (Cincinnati) 3333 Burnet Ave Cincinnati, Oh 452293039 Timing: Fiscal Year 2003 Summary: This abstract is not available. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: CLINICAL TRIAL OF GENE THERAPY OF GAUCHER DISEASE Principal Investigator & Institution: Barranger, John; University of Pittsburgh at Pittsburgh 350 Thackeray Hall Pittsburgh, Pa 15260 Timing: Fiscal Year 2002 Summary: The hypothesis of this study is that genetically corrected peripheral blood stem cells (PBSC) will result in a sustained reversal of the phenotype in patients with Gaucher disease. Specific aims to be achieved are the transfer of the human GC gene into PBSC obtained from patients with Gaucher disease, the transplantation of transduced PBSC autogously to patients and the measurement of carriage and expression of transferred gene and its duration in peripheral blood luekocytes (PBL) and the assessment of clinical effects of transplanting genetically corrected PBSC in patients with Gaucher disease. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: CORE--GENE TRANSDUCTION AND GENE THERAPY Principal Investigator & Institution: Kohn, Donald B.; Professor of Pediatrics and Microbiology; Children's Hospital Los Angeles 4650 Sunset Blvd Los Angeles, Ca 900276062 Timing: Fiscal Year 2002 Summary: In the prior years of the grant, the Gene Transfer and Gene Therapy ore (GTAGTC) has produce retroviral vectors for the investigators of the projects. We have gained proficiency in the design, construction and packaging of HIV-1 based lentiviral vectors. The Core has also supported clinical gene therapy trials for Gaucher disease and ADA-deficient SCID. In the next funding period, the GTAGT Core will use current state-of-the- art vectors and packaging system to design, construct, package and perform initial characterization of retroviral and lentiviral vectors for investigators of the Projects to pursue their scientific objectives. Additionally, the Core will continue to perform transductions of patient HSC for clinical gene marking and gene therapy studies and molecular analyses of samples from clinical gene therapy trials to define the extents of gene transfer and expression. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: GLUCOCEREBROSIDASE GENE TRANSFER TO THE NERVOUS SYSTEM Principal Investigator & Institution: Becker, Pamela S.; Associate Professor of Medicine and Chie; Cancer Center; Univ of Massachusetts Med Sch Worcester Office of Research Funding Worcester, Ma 01655 Timing: Fiscal Year 2002; Project Start 07-AUG-2002; Project End 30-JUN-2004

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Summary: (provided by applicant): The neuronopathic types of Gaucher disease still present a challenge for the treatment of the CNS symptoms. One approach would be gene therapy, but despite the fact that the glucocerebrosidase (GC) cDNA has been successfully transferred by retroviral vector to normal murine and human hematopoietic stem cells or by adeno-associated virus vector to muscle cells, and the transduced murine cells successfully transplanted in mice, the three clinical trials conducted to date resulted in either low levels of gene transfer, or a failure of engraftment after infusion, with a single exception. Gene transfer to neurons has been successfully demonstrated using retroviral, lentiviral, and other vectors. Engraftment of transduced neuronal and hematopoietic progenitors has been demonstrated in the brain of recipient animals. We hypothesize that transplantation of hematopoietic or neuronal progenitor cells transduced by retroviral and lentiviral vectors containing the cDNA for human glucocerebrosidase. This study will test the hypothesis that transplantation of hematopoietic or neuronal progenitor cells transduced by retroviral and lentiviral vectors containing the cDNA for human glucocerebrosidase will engraft in recipient Gaucher L444P mutant mice and lead to improved enzyme levels. Gene transfer to neurons has been successfully demonstrated with both retroviral and lentiviral vectors, and engraftment of transduced neuronal and hematopoietic progenitors has been attained in the brains of recipient animals. However, despite this success in animal models, the three clinical trials conducted to date have generally resulted in either low levels of gene transfer or a failure of engraftment after cell infusion. To accomplish this, we will: 1) characterize more completely the newly established Gaucher L444P mutant mouse; 2) intravenously administer retrovirally and lentivirally transduced hematopoietic progenitors to determine the extent of improved glucocerebrosidase enzyme levels in the tissues of the recipient mutant mice; and, 3) transplant by intrathecal administration ex vivo transduced hematopoietic or neuronal progenitors to determine if these cells will repopulate in brain and express glucocerebrosidase activity. At the completion of this study we will have determined whether lentiviral mediated gene transfer of human GC will result in sustained and improved enzyme levels in tissues, particularly brain, of recipient Gaucher mutant mice. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: HYPOXEMIA AND PULMONARY HYPERTENSION IN GAUCHER DISEASE Principal Investigator & Institution: Dawson, Arthur D.; Scripps Research Institute Tpc7 La Jolla, Ca 92037 Timing: Fiscal Year 2002 Summary: This abstract is not available. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: NATURAL HISTORY AND TREATMENT OF GAUCHER DISEASE Principal Investigator & Institution: Kolodny, Edwin H.; New York University School of Medicine 550 1St Ave New York, Ny 10016 Timing: Fiscal Year 2002 Summary: This abstract is not available. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: NIEMANN-PICK DISEASE Principal Investigator & Institution: Wasserstein, Melissa P.; General Clinical Research Ctr; Mount Sinai School of Medicine of Nyu of New York University New York, Ny 10029 Timing: Fiscal Year 2002; Project Start 01-MAY-2001; Project End 30-APR-2006 Summary: Types A and B Niemann-Pick disease (NPD) are lysosomal storage disorders caused by deficient acid sphingomyelinase (ASM). Type A NPD is a severe neurodegenerative disease of infancy that typically causes death by three years of age. Type B NPD is characterized by the lack of neurological involvement and a phenotypic spectrum ranging from severe multisystem disease and early demise, to a milder condition of adulthood. The principal manifestations of Type B NPD include infiltrative pulmonary disease, hepatosplenomegaly, hyperlipidemia, and growth retardation and delayed puberty in children. The difficulty in differentiating between Types A and B NPD early in the disease course limits prognostic information, complicates family planning, and interferes with the selection of candidates for early therapeutic endeavors. Therefore, the ability to predict disease severity using information derived from empiric correlations between genotype and phenotype would be of significant value. Treatment for Types A and B NPD is primarily supportive, although bone marrow transplantation has been attempted with very limited success in Type B NPD patients. The therapeutic success of enzyme replacement therapy (ERT) in a related lysosomal storage disorder, Type I Gaucher disease, coupled with the demonstrated effectiveness of ERT in the Niemann-Pick mouse, provide the rationale for a clinical trial using recombinant ASM in patients with non-neuronopathic Type B NPD. The proposed studies will therefore focus on determining correlations between the clinical, radiographic and biochemical manifestations of Types A and B NPD and specific ASM mutations. In addition, the safety and effectiveness of ERT for Type B NPD will be evaluated. Thus the specific aims of the proposed research are: 1) to determine the natural history of Types A and B NPD and identify causative ASM mutations for genotype/phenotype correlations and 2) to evaluate the role of ERT for Type B NPD. An FDA-approved phase I/II clinical trial will be performed in Type B NPD patients to determine the safety and effectiveness of varying doses of intravenously administered recombinant human ASM. A series of clinical, biochemical, and pharmacological studies will be performed in order to evaluate the therapeutic effectiveness as well as the pharmacokinetics of the drug. In sum, these studies should provide important diagnostic and therapeutic information to improve the outcome of patients diagnosed with NPD. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: STUDIES OF GAUCHER DISEASE: A PROTOTYPE LIPIDOSIS Principal Investigator & Institution: Grabowski, Gregory A.; Professor and Director; Children's Hospital Med Ctr (Cincinnati) 3333 Burnet Ave Cincinnati, Oh 452293039 Timing: Fiscal Year 2002; Project Start 01-JAN-1986; Project End 30-JUN-2006 Summary: (provided by applicant): The overall objective of the proposed research is to delineate the molecular bases of the marked phenotypic variability in Gaucher disease (GD), a prototype inborn error of metabolism. The proposed studies address the hypotheses: 1) The mutations that predispose to GD are associated with disruptions of acid B-glucosidase [glucosylceramide (GC) glucohydrolase; UCase: GBA locus] structure and function leading to differential threshold levels of enzymatic activity in various patient tissues. Although this is a major basis of the phenotypic spectrum, intraand inter- locus sequence variants and polymorphisms may provide for additional

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contexts for phenotypic expression of disease-related mutations, e.g., altered substrate flux. To understand the interplay of such sequence variations, the determinants for the control of normal and mutant GCase enzyme activities will be evaluated with liposomal (in vitro) and lysosomal (ex vivo) membrane binding systems. 2) The in vivo levels of specific substrate synthesis and degradation, e.g., GC synthase (GCS) expression, and hydrolase activity, in selected inborn errors of glycosphingolipid (GSL) metabolism are primary determinants of their regional, tissue or cellular pathophysiology. The functional polymorphic variation at the GCS and GCase loci and the relationships of these variations to defined phenotypic parameters will be determined in patients with GD type 1. As a corollary, effective enzyme or gene therapy in GD, as a prototype, requires specific levels of enzyme in various organs. 3) The lack of adequate mouse models for GD have been a major impediment to continuing progress in pathophysiologic understanding and therapeutic developments, and their creation and characterization is a major focus of this proposal. We have developed conditional (tetracycline-on) and fixed (five specific point mutations) GCase expressing mice to simulate human GD variants. These alternative systems, together with the GCS KO heterozgyote mice will be used to address GC flux in relation to phenotype in vivo. These studies should provide insights into the pathophysiology and therapy of GD, and to over 20 glycolipid storage diseases that depend on the GCS synthetic and GCase degradative pathwavs. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: THE NATURAL HISTORY AND TREATMENT OF GAUCHER DISEASE Principal Investigator & Institution: Mistry, Pram; Mount Sinai School of Medicine of Cuny New York, Ny 10029 Timing: Fiscal Year 2002 Summary: This abstract is not available. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: TYPE 1 GAUCHER DISEASE: GENOTYPE/PHENOTYPE STUDIES Principal Investigator & Institution: Prakash-Cheng, Ainu; Human Genetics; Mount Sinai School of Medicine of Nyu of New York University New York, Ny 10029 Timing: Fiscal Year 2004; Project Start 15-JUL-2004; Project End 30-JUN-2009 Summary: (provided by applicant): The proposed Mentored Patient-Oriented Research Career Award is designed to provide the applicant with the didactic training, research skills, and mentored research experience needed to conduct high-quality clinical research on the genetic basis and treatment of inherited diseases. The didactic component will lead to an MS degree in Clinical Research in the K30 Clinical Research Curriculum offered at Mount Sinai. The mentored research focuses on Type 1 Gaucher disease (GD), the most common lysosomal storage disease, which is especially prevalent in individuals of Ashkenazi Jewish (AJ) descent. The deficient activity of acid 13glucosidase, encoded by mutations in its gene (GBA), results in the accumulation of glucosylceramide (GL-1), particularly in the macrophage-monocyte system. The disease phenotype has marked variability in patients with the N370S/N370S genotype (i.e., N370S homozygotes), ranging from severe hepatosplenomegaly, pancytopenia, and debilitating bone disease in childhood to overtly asymptomatic in late adulthood. Significant phenotypic diversity is also seen in N370S/"null" (N370S/84GG or N370S/IVS2 +1) patients. The proposed research will investigate the hypothesis that

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modifier genes are responsible for the markedly different phenotypes in AJ N370S homozygotes and N370S/null patients. The specific aims include: 1) characterizing and comparing the phenotypes in asymptomatic and symptomatic AJ N370S homozygotes, and mild and severe N370S/"null" patients, 2) identifying genes using microarrays that are markedly differentially expressed in blood monocytes isolated by fluorescenceactivated cell sorting (FACS) from symptomatic and severe N370S homozygotes and normal controls, 3) identifying/investigating candidate modifier genes, including two involved in GL-1 metabolism, as well as selected genes adjacent to and in linkage disequilibrium (LD) with GBA, for polymorphisms that correlate with phenotype. These studies should provide insight into modifier genes responsible for the marked phenotypic differences in N370S homozygotes. In addition, the proposed studies will provide the applicant with the skills and experience necessary to conduct independent, high-quality patient-oriented research. The applicant will have protected research time, dedicated laboratory space, and access to the General Clinical Research Center (GCRC) and core facilities. Her development will be fostered by the commitment of her CoMentors to guide her in the proposed studies and in the responsible conduct of research, and by the outstanding research and intellectual environment at Mount Sinai. 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 “Gaucher 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 Gaucher disease in the PubMed Central database: •

Complete correction of the enzymatic defect of type I Gaucher disease fibroblasts by retroviral-mediated gene transfer. by Sorge J, Kuhl W, West C, Beutler E.; 1987 Feb; http://www.pubmedcentral.gov/picrender.fcgi?tool=pmcentrez&action=stream&blobt ype=pdf&artid=304328

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Correction of glucocerebrosidase deficiency after retroviral-mediated gene transfer into hematopoietic progenitor cells from patients with Gaucher disease. by Fink JK, Correll PH, Perry LK, Brady RO, Karlsson S.; 1990 Mar; http://www.pubmedcentral.gov/picrender.fcgi?tool=pmcentrez&action=stream&blobt ype=pdf&artid=53681

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Cross-reacting material in Gaucher disease fibroblasts. by Beutler E, Kuhl W, Sorge J.; 1984 Oct; http://www.pubmedcentral.gov/picrender.fcgi?tool=pmcentrez&action=stream&blobt ype=pdf&artid=391953

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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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Heterogeneity in type I Gaucher disease demonstrated by restriction mapping of the gene. by Sorge J, Gelbart T, West C, Westwood B, Beutler E.; 1985 Aug; http://www.pubmedcentral.gov/picrender.fcgi?tool=pmcentrez&action=stream&blobt ype=pdf&artid=390585

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Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state. by Beutler E, Gelbart T, Kuhl W, Sorge J, West C.; 1991 Dec 1; http://www.pubmedcentral.gov/picrender.fcgi?tool=pmcentrez&action=stream&blobt ype=pdf&artid=52965

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Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure (SIMP). by Liu Y, Suzuki K, Reed JD, Grinberg A, Westphal H, Hoffmann A, Doring T, Sandhoff K, Proia RL.; 1998 Mar 3; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&artid=19391

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 Gaucher disease, simply go to the PubMed Web site at http://www.ncbi.nlm.nih.gov/pubmed. Type “Gaucher disease” (or synonyms) into the search box, and click “Go.” The following is the type of output you can expect from PubMed for Gaucher disease (hyperlinks lead to article summaries): •

A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency. Author(s): Hrebicek M, Zeman J, Musilova J, Hodanova K, Renkema GH, Veprekova L, Ledvinova J, Hrebicek D, Sokolova J, Aerts JM, Elleder M. Source: Virchows Archiv : an International Journal of Pathology. 1996 November; 429(45): 305-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8972767

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A comparison of the pharmacological properties of carbohydrate remodeled recombinant and placental-derived beta-glucocerebrosidase: implications for clinical efficacy in treatment of Gaucher disease. Author(s): Friedman B, Vaddi K, Preston C, Mahon E, Cataldo JR, McPherson JM. Source: Blood. 1999 May 1; 93(9): 2807-16. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10216074

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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 new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease. Author(s): Cormand B, Diaz A, Grinberg D, Chabas A, Vilageliu L. Source: Blood Cells, Molecules & Diseases. 2000 October; 26(5): 409-16. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11112377

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A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease. Author(s): Sinclair G, Choy FY, Humphries L. Source: Blood Cells, Molecules & Diseases. 1998 December; 24(4): 420-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9851895

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A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online. Author(s): Choy FY, Humphries ML, Ben-Yoseph Y. Source: Human Mutation. 1998; 11(5): 411-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10206680

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Accuracy of ultrasonography in assessing spleen and liver size in patients with Gaucher disease: comparison to computed tomographic measurements. Author(s): Elstein D, Hadas-Halpern I, Azuri Y, Abrahamov A, Bar-Ziv Y, Zimran A. Source: Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine. 1997 March; 16(3): 209-11. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9166820

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Age estimate of the N370S mutation causing Gaucher disease in Ashkenazi Jews and European populations: A reappraisal of haplotype data. Author(s): Colombo R. Source: American Journal of Human Genetics. 2000 February; 66(2): 692-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10677327

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Alglucerase enzyme replacement therapy used safely and effectively throughout the whole pregnancy of a Gaucher disease patient. Author(s): Aporta Rodriguez R, Escobar Vedia JL, Navarro Castro AM, Aguilar Garcia G, Cabrera Torres A. Source: Haematologica. 1998 September; 83(9): 852-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9825582

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Alglucerase treatment of type 1 Gaucher disease with pulmonary involvement. Author(s): Martinez Odrizola P, Ferrero O, Jauregui I, Miguel F. Source: Respiratory Medicine. 1998 December; 92(12): 1370-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10197233

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Allogeneic bone marrow transplantation for Gaucher disease--a case report. Author(s): Yen CC, Chiou TJ, Lin CY, Wang NH, Chen PM. Source: Zhonghua Yi Xue Za Zhi (Taipei). 1997 June; 59(6): 372-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9294918

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ALP isoenzyme separation in type 1 Gaucher disease. Author(s): Ciana G, Tamaro G, Martini C, Ceschel S, Cuttini M, Bembi B. Source: Clinical Chemistry and Laboratory Medicine : Cclm / Fescc. 2000 May; 38(5): 479-80. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10952233

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Amyloidosis and gastric bleeding in a patient with Gaucher disease. Author(s): Elstein D, Rosenmann E, Reinus C, Paz J, Altarescu G, Zimran A. Source: Journal of Clinical Gastroenterology. 2003 September; 37(3): 234-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12960723

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An autopsy case of fetal Gaucher disease. Author(s): Adachi Y, Kobayashi Y, Ida H, Yasumizu R, Okamura A, Kayatani H, Teranishi N, Inaba M, Sugihara A, Genba H, Eto Y, Ikehara S. Source: Acta Paediatr Jpn. 1998 August; 40(4): 374-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9745785

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Anaesthetic management of children with type II and III Gaucher disease. Author(s): Dell'Oste C, Vincenti F. Source: Minerva Pediatr. 1997 October; 49(10): 495-8. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9557496

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Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Author(s): Koprivica V, Stone DL, Park JK, Callahan M, Frisch A, Cohen IJ, Tayebi N, Sidransky E. Source: American Journal of Human Genetics. 2000 June; 66(6): 1777-86. Epub 2000 May 04. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10796875

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Application of delayed extraction-matrix-assisted laser desorption ionization time-offlight mass spectrometry for analysis of sphingolipids in pericardial fluid, peritoneal fluid and serum from Gaucher disease patients. Author(s): Fujiwaki T, Yamaguchi S, Tasaka M, Sakura N, Taketomi T. Source: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences. 2002 August 25; 776(1): 115-23. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12127332

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Asymptomatic Gaucher disease implications for large-scale screening. Author(s): Azuri J, Elstein D, Lahad A, Abrahamov A, Hadas-Halpern I, Zimran A. Source: Genetic Testing. 1998; 2(4): 297-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10464607

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Audiometric abnormalities in children with Gaucher disease type 3. Author(s): Bamiou DE, Campbell P, Liasis A, Page J, Sirimanna T, Boyd S, Vellodi A, Harris C. Source: Neuropediatrics. 2001 June; 32(3): 136-41. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11521209

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Avascular necrosis of the sacroiliac joint in a patient with Gaucher disease. Author(s): Aharoni D, Mekhmandarov S, Itzchaki M, Hiller N, Elstein D. Source: Isr Med Assoc J. 2001 October; 3(10): 767-8. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11692553

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Beta-glucosidase activity in liver, spleen and brain in acute neuropathic Gaucher disease. Author(s): Takahashi T, Nishio H, Kodama S, Nakamura H. Source: Brain & Development. 1990; 12(2): 202-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2113779

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beta-Glucosidase isoenzymes in Epstein-Barr virus-transformed lymphoid cell lines from normal subjects and patients with type 1 Gaucher disease. Author(s): Maret A, Salvayre R, Samadi M, Douste-Blazy L. Source: Enzyme. 1987; 37(4): 208-17. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3038513

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Biochemical and ultrastructural findings in Epstein-Barr virus-transformed lymphoid cell lines from type 1 Gaucher disease. Author(s): Maret A, Salvayre R, Livni N, Icart J, Vuillaume M, Douste-Blazy L. Source: Biology of the Cell / under the Auspices of the European Cell Biology Organization. 1987; 59(1): 101-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3038233

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Biochemical markers of bone turnover as tools in the evaluation of skeletal involvement in patients with type 1 Gaucher disease. Author(s): Drugan C, Jebeleanu G, Grigorescu-Sido P, Caillaud C, Craciun AM. Source: Blood Cells, Molecules & Diseases. 2002 January-February; 28(1): 13-20. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11814307

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Biochemical properties of the tartrate-resistant acid phosphatase activity in Gaucher disease. Author(s): Lam KW, Desnick RJ. Source: Prog Clin Biol Res. 1982; 95: 267-78. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6750653

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Biochemical studies in a patient with subacute neuropathic Gaucher disease without visceral glucosylceramide storage. Author(s): Wenger DA, Roth S, Kudoh T, Grover WD, Tucker SH, Kaye EM, Ullman MD. Source: Pediatric Research. 1983 May; 17(5): 344-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6856396

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Bone and bone marrow changes in Gaucher disease: evaluation with quantitative CT. Author(s): Rosenthal DI, Mayo-Smith W, Goodsitt MM, Doppelt S, Mankin HJ. Source: Radiology. 1989 January; 170(1 Pt 1): 143-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2909087

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Bone and joint complications related to Gaucher disease. Author(s): Pastores GM, Patel MJ, Firooznia H. Source: Curr Rheumatol Rep. 2000 April; 2(2): 175-80. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11123056

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Bone complications in children with Gaucher disease. Author(s): Bembi B, Ciana G, Mengel E, Terk MR, Martini C, Wenstrup RJ. Source: The British Journal of Radiology. 2002; 75 Suppl 1: A37-44. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12036831

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Bone crises in Gaucher disease. Author(s): Cohen IJ. Source: Isr Med Assoc J. 2003 November; 5(11): 838-9. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14650121

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Bone crisis in Gaucher disease--an update. Author(s): Yosipovitch Z, Katz K. Source: Isr J Med Sci. 1990 October; 26(10): 593-5. Review. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2249941

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Bone density in Type 1 Gaucher disease. Author(s): Pastores GM, Wallenstein S, Desnick RJ, Luckey MM. Source: Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research. 1996 November; 11(11): 1801-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8915789

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Bone involvement in Gaucher disease. Author(s): Beighton P, Goldblatt J, Sacks S. Source: Prog Clin Biol Res. 1982; 95: 107-29. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7122630

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Bone marker alterations in patients with type 1 Gaucher disease. Author(s): Ciana G, Martini C, Leopaldi A, Tamaro G, Katouzian F, Ronfani L, Bembi B. Source: Calcified Tissue International. 2003 March; 72(3): 185-9. Epub 2003 January 15. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12522660

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Bone marrow relaxation times in Gaucher disease before and after enzyme replacement therapy. Author(s): Magnaldi S, Longo R, Ukmar M, Zanatta M, Bottega M, Sottocasa GL. Source: European Radiology. 1997; 7(4): 486-91. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9204325

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Bone marrow response in treated patients with Gaucher disease: evaluation by T1weighted magnetic resonance images and correlation with reduction in liver and spleen volume. Author(s): Terk MR, Dardashti S, Liebman HA. Source: Skeletal Radiology. 2000 October; 29(10): 563-71. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11127678

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Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III. Author(s): Krivit W, Peters C, Shapiro EG. Source: Current Opinion in Neurology. 1999 April; 12(2): 167-76. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10226749

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Bone marrow transplantation in Gaucher disease. Author(s): Rappeport JM, Barranger JA, Ginns EI. Source: Birth Defects Orig Artic Ser. 1986; 22(1): 101-9. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3516238

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Bone scans in the diagnosis of bone crisis in patients who have Gaucher disease. Author(s): Katz K, Mechlis-Frish S, Cohen IJ, Horev G, Zaizov R, Lubin E. Source: The Journal of Bone and Joint Surgery. American Volume. 1991 April; 73(4): 5137. Erratum In: J Bone Joint Surg Am 1991 June; 73(5): 791. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2013590

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Bone ultrasonometry, bone density, and turnover markers in type 1 Gaucher disease. Author(s): Fiore CE, Barone R, Pennisi P, Pavone V, Riccobene S. Source: Journal of Bone and Mineral Metabolism. 2002; 20(1): 34-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11810414

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Cardiovascular fibrosis, hydrocephalus, ophthalmoplegia, and visceral involvement in an American child with Gaucher disease. Author(s): Stone DL, Tayebi N, Coble C, Ginns EI, Sidransky E. Source: Journal of Medical Genetics. 2000 November; 37(11): E40. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11073549

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Carrier screening for Gaucher disease in couples of mixed ethnicity. Author(s): Wallerstein R, Starkman A, Jansen V. Source: Genetic Testing. 2001 Spring; 5(1): 61-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11336404

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Cessation of enzyme replacement therapy in Gaucher disease. Author(s): Grinzaid KA, Geller E, Hanna SL, Elsas LJ 2nd. Source: Genetics in Medicine : Official Journal of the American College of Medical Genetics. 2002 November-December; 4(6): 427-33. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12509713

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Changes in serum chitotriosidase activity with cessation of replacement enzyme (cerebrosidase) administration in Gaucher disease. Author(s): Czartoryska B, Tylki-Szymanska A, Lugowska A. Source: Clinical Biochemistry. 2000 March; 33(2): 147-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10751594

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Chemical chaperones increase the cellular activity of N370S beta -glucosidase: a therapeutic strategy for Gaucher disease. Author(s): Sawkar AR, Cheng WC, Beutler E, Wong CH, Balch WE, Kelly JW. Source: Proceedings of the National Academy of Sciences of the United States of America. 2002 November 26; 99(24): 15428-33. Epub 2002 Nov 14. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12434014

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Children with type I Gaucher disease: growing into adulthood with and without enzyme therapy. Author(s): Zimran A, Abrahamov A, Elstein D. Source: Isr Med Assoc J. 2000 February; 2(2): 80-1. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10804921

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Cholelithiasis in patients with Gaucher disease. Author(s): Rosenbaum H, Sidransky E. Source: Blood Cells, Molecules & Diseases. 2002 January-February; 28(1): 21-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11987238

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Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation. Author(s): Ida H, Rennert OM, Iwasawa K, Kobayashi M, Eto Y. Source: Human Genetics. 1999 July-August; 105(1-2): 120-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10480365

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Clinical and molecular characteristics of Japanese Gaucher disease. Author(s): Eto Y, Ida H. Source: Neurochemical Research. 1999 February; 24(2): 207-11. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9972866

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Clinical quiz. Gaucher disease. Author(s): Yeung KA, Pinero-Carrero VM, Bornstein JA. Source: Journal of Pediatric Gastroenterology and Nutrition. 2001 August; 33(2): 182, 205. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11575304

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Clinically relevant therapeutic endpoints in type I Gaucher disease. Author(s): Hollak CE, Maas M, Aerts JM. Source: Journal of Inherited Metabolic Disease. 2001; 24 Suppl 2: 97-105; Discussion 87-8. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11758685

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Coagulopathy in Gaucher disease. Author(s): Ozturk G, Kocak U, Gursel T, Ezgu FS. Source: Indian J Pediatr. 1998 September-October; 65(5): 771-2. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10773938

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Coexistence of Gaucher disease type 1 and Joubert syndrome. Author(s): Boltshauser EJ, Maria BL. Source: Journal of Medical Genetics. 1999 November; 36(11): 870-1. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10636737

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Coexistence of Gaucher disease type 1 and Joubert syndrome. Author(s): van Royen-Kerkhof A, Poll-The BT, Kleijer WJ, van Diggelen OP, Aerts JM, Hopwood JJ, Beemer FA. Source: Journal of Medical Genetics. 1998 November; 35(11): 965-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9832051

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Commentary: low-dose high-frequency enzyme replacement therapy prevents fractures without complete suppression of painful bone crises in patients with severe juvenile onset type I Gaucher disease. Author(s): Elstein D, Abrahamov A, Itzchaki M, Zimran A. Source: Blood Cells, Molecules & Diseases. 1998 September; 24(3): 303-5; Discussion 3068. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10087988

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Commentary: the natural history of Gaucher disease. Author(s): Beutler E. Source: Blood Cells, Molecules & Diseases. 1998 March; 24(1): 82. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9541480

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Comparative efficacy of dose regimens in enzyme replacement therapy of type I Gaucher disease. Author(s): Altarescu G, Schiffmann R, Parker CC, Moore DF, Kreps C, Brady RO, Barton NW. Source: Blood Cells, Molecules & Diseases. 2000 August; 26(4): 285-90. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11042029

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Corneal opacities in Gaucher disease. Author(s): Guemes A, Kosmorsky GS, Moodie DS, Clark B, Meisler D, Traboulsi EI. Source: American Journal of Ophthalmology. 1998 December; 126(6): 833-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9860012

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Correlation among genotype, phenotype, and biochemical markers in Gaucher disease: implications for the prediction of disease severity. Author(s): Whitfield PD, Nelson P, Sharp PC, Bindloss CA, Dean C, Ravenscroft EM, Fong BA, Fietz MJ, Hopwood JJ, Meikle PJ. Source: Molecular Genetics and Metabolism. 2002 January; 75(1): 46-55. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11825063

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Correlation of bone marrow response with hematological, biochemical, and visceral responses to enzyme replacement therapy of nonneuronopathic (type 1) Gaucher disease in 30 adult patients. Author(s): Poll LW, Koch JA, Willers R, Aerts H, Scherer A, Haussinger D, Modder U, vom Dahl S. Source: Blood Cells, Molecules & Diseases. 2002 March-April; 28(2): 209-20. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12064917

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D-dimer assay in Gaucher disease: correlation with severity of bone and lung involvement. Author(s): Shitrit D, Rudensky B, Zimran A, Elstein D. Source: American Journal of Hematology. 2003 August; 73(4): 236-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12879425

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Decrease of plasma taurine in Gaucher disease and its sustained correction during enzyme replacement therapy. Author(s): vom Dahl S, Monnighoff I, Haussinger D. Source: Amino Acids. 2000; 19(3-4): 585-92. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11140361

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Decreased salivary output in patients with Gaucher disease. Author(s): Dayan B, Elstein D, Zimran A, Nesher G. Source: Qjm : Monthly Journal of the Association of Physicians. 2003 January; 96(1): 53-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12509649

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Deficiency of steriod beta-glucosidase in Gaucher disease. Author(s): Kanfer JN, Raghavan SS, Mumford RA, Labow RS, Williamson DG, Layne DS. Source: Biochemical and Biophysical Research Communications. 1975 November 17; 67(2): 683-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1201047

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Deficient activity of glucocerebrosidase in urine from patients with type 1 Gaucher disease. Author(s): Aerts JM, Donker-Koopman WE, Koot M, Barranger JA, Tager JM, Schram AW. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1986 July 30; 158(2): 155-63. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2943536

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Delayed growth and puberty in patients with Gaucher disease type 1: natural history and effect of splenectomy and/or enzyme replacement therapy. Author(s): Kauli R, Zaizov R, Lazar L, Pertzelan A, Laron Z, Galatzer A, Phillip M, Yaniv Y, Cohen IJ. Source: Isr Med Assoc J. 2000 February; 2(2): 158-63. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10804944

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Demonstration of feasibility of in vivo gene therapy for Gaucher disease using a chemically induced mouse model. Author(s): Marshall J, McEachern KA, Kyros JA, Nietupski JB, Budzinski T, Ziegler RJ, Yew NS, Sullivan J, Scaria A, van Rooijen N, Barranger JA, Cheng SH. Source: Molecular Therapy : the Journal of the American Society of Gene Therapy. 2002 August; 6(2): 179-89. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12161184

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Demonstration of the existence of a second, non-lysosomal glucocerebrosidase that is not deficient in Gaucher disease. Author(s): van Weely S, Brandsma M, Strijland A, Tager JM, Aerts JM. Source: Biochimica Et Biophysica Acta. 1993 March 24; 1181(1): 55-62. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8457606

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Detection and isolation of gene-corrected cells in Gaucher disease via a fluorescenceactivated cell sorter assay for lysosomal glucocerebrosidase activity. Author(s): Lorincz M, Herzenberg LA, Diwu Z, Barranger JA, Kerr WG. Source: Blood. 1997 May 1; 89(9): 3412-20. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9129049

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Development of safe and efficient retroviral vectors for Gaucher disease. Author(s): Havenga M, Fisher R, Hoogerbrugge P, Roberts B, Valerio D, van Es HH. Source: Gene Therapy. 1997 December; 4(12): 1393-400. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9472564

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Diagnosing Gaucher disease. Early recognition, implications for treatment, and genetic counseling. Author(s): Sidransky E, Tayebi N, Ginns EI. Source: Clinical Pediatrics. 1995 July; 34(7): 365-71. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7554686

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Diagnosis of adult Gaucher disease: use of a new chromogenic substrate, 2hexadecanoylamino-4-nitrophenyl-beta-D-glucopyranoside, in cultured skin fibroblasts. Author(s): Johnson WG, Gal AE, Miranda AF, Pentchev PG. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1980 March 14; 102(1): 91-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7389109

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Differences in origin of the 1448C mutation in patients with Gaucher disease. Author(s): Iwasawa K, Ida H, Eto Y. Source: Acta Paediatr Jpn. 1997 August; 39(4): 451-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9316290

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Differential effects of enzyme supplementation therapy on manifestations of type 1 Gaucher disease. Author(s): Hollak CE, Corssmit EP, Aerts JM, Endert E, Sauerwein HP, Romijn JA, van Oers MH. Source: The American Journal of Medicine. 1997 September; 103(3): 185-91. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9316550

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Differentiation of the glucocerebrosidase gene from pseudogene by long-template PCR: implications for Gaucher disease. Author(s): Tayebi N, Cushner S, Sidransky E. Source: American Journal of Human Genetics. 1996 September; 59(3): 740-1. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8751878

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Disc gel electrophoresis of proteins of membranous cytoplasmic inclusion bodies from the spleen of the patient with Gaucher disease. Author(s): Abe T, Yamakawa T, Endou H, Nagashima K. Source: Jpn J Exp Med. 1978 April; 48(2): 177-81. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=213628

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Dixon quantitative chemical shift imaging is a sensitive tool for the evaluation of bone marrow responses to individualized doses of enzyme supplementation therapy in type 1 Gaucher disease. Author(s): Hollak C, Maas M, Akkerman E, den Heeten A, Aerts H. Source: Blood Cells, Molecules & Diseases. 2001 November-December; 27(6): 1005-12. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11831867

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Gaucher Disease

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DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent. Author(s): Choy FY, Wei C, Applegarth DA, McGillivray BC. Source: American Journal of Medical Genetics. 1994 June 1; 51(2): 156-60. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7916532

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Dosage-response in the treatment of Gaucher disease by enzyme replacement therapy. Author(s): Beutler E. Source: Blood Cells, Molecules & Diseases. 2000 August; 26(4): 303-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11042031

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Dose-dependent responses to macrophage-targeted glucocerebrosidase in a child with Gaucher disease. Author(s): Barton NW, Brady RO, Dambrosia JM, Doppelt SH, Hill SC, Holder CA, Mankin HJ, Murray GJ, Zirzow GC, Parker RI. Source: The Journal of Pediatrics. 1992 February; 120(2 Pt 1): 277-80. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1735829

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Early-onset severe neurological involvement and D409H homozygosity in Gaucher disease: outcome of enzyme replacement therapy. Author(s): Michelakakis H, Skardoutsou A, Mathioudakis J, Moraitou M, Dimitriou E, Voudris C, Karpathios T. Source: Blood Cells, Molecules & Diseases. 2002 January-February; 28(1): 1-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11814305

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Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Author(s): Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Zimran A. Source: The American Journal of Medicine. 2002 August 1; 113(2): 112-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12133749

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Effects of enzyme replacement therapy in thirteen Japanese paediatric patients with Gaucher disease. Author(s): Ida H, Rennert OM, Kobayashi M, Eto Y. Source: European Journal of Pediatrics. 2001 January; 160(1): 21-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11195013

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Effects of imilglucerase withdrawal on an adult with Gaucher disease. Author(s): Schwartz IV, Karam S, Ashton-Prolla P, Michelin K, Coelho J, Pires RF, Pereira ML, Giugliani R. Source: British Journal of Haematology. 2001 June; 113(4): 1089. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11442517

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Elevated levels of M-CSF, sCD14 and IL8 in type 1 Gaucher disease. Author(s): Hollak CE, Evers L, Aerts JM, van Oers MH. Source: Blood Cells, Molecules & Diseases. 1997 August; 23(2): 201-12. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9236158

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Enzyme replacement therapy for Gaucher disease: critical investigations beyond demonstration of clinical efficacy. Author(s): Brady RO, Barton NW. Source: Biochemical Medicine and Metabolic Biology. 1994 June; 52(1): 1-9. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7917461

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Enzyme replacement therapy for Gaucher Disease: the only experience in Malaysia. Author(s): Chan LL, Lin HP. Source: Med J Malaysia. 2002 September; 57(3): 348-52. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12440275

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Enzyme replacement therapy in type III Gaucher disease. Author(s): Tylki-Szymanska A, Czartoryska B. Source: Journal of Inherited Metabolic Disease. 1999 April; 22(2): 203-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10234625

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Enzyme replacement therapy with imiglucerase in Taiwanese patients with type I Gaucher disease. Author(s): Hsu CC, Chien YH, Lai MY, Hwu WL. Source: J Formos Med Assoc. 2002 September; 101(9): 627-31. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12645190

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Enzyme therapy for Gaucher disease: the first 5 years. Author(s): Grabowski GA, Leslie N, Wenstrup R. Source: Blood Reviews. 1998 June; 12(2): 115-33. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9661800

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Enzyme therapy in Gaucher disease type 1: effect of neutralizing antibodies to acid beta-glucosidase. Author(s): Ponce E, Moskovitz J, Grabowski G. Source: Blood. 1997 July 1; 90(1): 43-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9207436

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Enzyme therapy in Gaucher disease type 2: an autopsy case. Author(s): Takahashi T, Yoshida Y, Sato W, Yano T, Shoji Y, Sawaishi Y, Sakuma I, Sashi T, Enomoto K, Ida H, Takada G. Source: The Tohoku Journal of Experimental Medicine. 1998 October; 186(2): 143-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10223617

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Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannoseterminated glucocerebrosidase from natural and recombinant sources. Author(s): Grabowski GA, Barton NW, Pastores G, Dambrosia JM, Banerjee TK, McKee MA, Parker C, Schiffmann R, Hill SC, Brady RO. Source: Annals of Internal Medicine. 1995 January 1; 122(1): 33-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7985893

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Enzyme therapy of Gaucher disease: clinical and biochemical changes during production of and tolerization for neutralizing antibodies. Author(s): Zhao H, Bailey LA, Grabowski GA. Source: Blood Cells, Molecules & Diseases. 2003 January-February; 30(1): 90-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12667990

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Ethical considerations for enzyme replacement therapy in neuronopathic Gaucher disease. Author(s): Elstein D, Abrahamov A, Zimran A. Source: Clinical Genetics. 1998 September; 54(3): 179-84. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9788718

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Ethical guidelines for enzyme therapy in neuronopathic Gaucher disease. Author(s): Elstein D, Steinberg A, Abrahamov A, Zimran A. Source: American Journal of Human Genetics. 1997 October; 61(4): A354. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11644969

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Ethics, policy, and rare genetic disorders: the case of Gaucher disease in Israel. Author(s): Gross ML. Source: Theoretical Medicine and Bioethics. 2002; 23(2): 151-70. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12400900

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Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease. Author(s): Germain DP, Puech JP, Caillaud C, Kahn A, Poenaru L. Source: American Journal of Human Genetics. 1998 August; 63(2): 415-27. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9683600

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Expansion of hematogones in a patient with Gaucher disease. Author(s): D'Arena G, Bisceglia M, Ladogana S, Carella AM, Carotenuto M, Paolucci P. Source: Medical and Pediatric Oncology. 2001 June; 36(6): 657-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11344501

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Extraordinary bone involvement in a Gaucher disease type I patient. Author(s): Barone R, Pavone V, Nigro F, Chabas A, Fiumara A. Source: British Journal of Haematology. 2000 March; 108(4): 838-41. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10792292

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Factor IX deficiency in Gaucher disease. An in vitro phenomenon. Author(s): Boklan BF, Sawitsky A. Source: Archives of Internal Medicine. 1976 April; 136(4): 489-92. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1267559

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Failure of alglucerase infused into Gaucher disease patients to localize in marrow macrophages. Author(s): Beutler E, Kuhl W, Vaughan LM. Source: Molecular Medicine (Cambridge, Mass.). 1995 March; 1(3): 320-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8529110

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Failure of resting echocardiography and cardiac catheterization to identify pulmonary hypertension in two patients with type I Gaucher disease. Author(s): Sirrs S, Irving J, McCauley G, Gin K, Munt B, Pastores G, Mistry P. Source: Journal of Inherited Metabolic Disease. 2002 May; 25(2): 131-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12118528

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Familial sea-blue histiocytes with acid phosphatemia. A syndrome resembling Gaucher disease: the Lewis variant. Author(s): Blankenship RM, Greenburg BR, Lucas RN, Reynolds RD, Beutler E. Source: Jama : the Journal of the American Medical Association. 1973 July 2; 225(1): 54-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4123476

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Femoral neck fractures complicating Gaucher disease in children. Author(s): Goldman AB, Jacobs B. Source: Skeletal Radiology. 1984; 12(3): 162-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6494933

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First long-term results of imiglucerase therapy of type 1 Gaucher disease. Author(s): Niederau C, vom Dahl S, Haussinger D. Source: European Journal of Medical Research. 1998 February 21; 3(1-2): 25-30. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9512964

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First trimester diagnosis of Gaucher disease in a fetus with trisomy 21. Author(s): Besley GT, Ferguson-Smith ME, Frew C, Morris A, Gilmore DH. Source: Prenatal Diagnosis. 1988 July; 8(6): 471-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2974955

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Five new Gaucher disease mutations. Author(s): Beutler E, Gelbart T, Demina A, Zimran A, LeCoutre P. Source: Blood Cells, Molecules & Diseases. 1995; 21(1): 20-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7655857

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Fluorescent flow cytometric assay: a new diagnostic tool for measuring betaglucocerebrosidase activity in Gaucher disease. Author(s): Rudensky B, Paz E, Altarescu G, Raveh D, Elstein D, Zimran A. Source: Blood Cells, Molecules & Diseases. 2003 January-February; 30(1): 97-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12667991

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Focal changes of the spleen in one case of Gaucher disease--assessed by ultrasonography, CT, MRI and angiography. Author(s): Aspestrand F, Charania B, Scheel B, Kolmannskog F, Jacobsen M. Source: Der Radiologe. 1989 November; 29(11): 569-71. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2685891

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Fractures in children who have Gaucher disease. Author(s): Katz K, Cohen IJ, Ziv N, Grunebaum M, Zaizov R, Yosipovitch Z. Source: The Journal of Bone and Joint Surgery. American Volume. 1987 December; 69(9): 1361-70. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3440795

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Frequency of carriers of chronic (type I) Gaucher disease in Ashkenazi Jews. Author(s): Matoth Y, Chazan S, Cnaan A, Gelernter I, Klibansky C. Source: American Journal of Medical Genetics. 1987 July; 27(3): 561-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3631130

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Functional characterization of the novel mutation IVS 8 (-11delC) (-14T>A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I. Author(s): Romano M, Danek GM, Baralle FE, Mazzotti R, Filocamo M. Source: Blood Cells, Molecules & Diseases. 2000 June; 26(3): 171-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10950936

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Gaucher disease and brucella: just a mere coincidence? Author(s): Turfaner Erturk N, Karter Y, Tungkale A, Sipahioglu F. Source: Genet Couns. 2003; 14(3): 363-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14577684

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Gaucher disease and parkinsonism: a phenotypic and genotypic characterization. Author(s): Tayebi N, Callahan M, Madike V, Stubblefield BK, Orvisky E, Krasnewich D, Fillano JJ, Sidransky E. Source: Molecular Genetics and Metabolism. 2001 August; 73(4): 313-21. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11509013

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Gaucher disease and the clinical experience with substrate reduction therapy. Author(s): Zimran A, Elstein D. Source: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences. 2003 May 29; 358(1433): 961-6. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12803930

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Gaucher disease associated with parkinsonism: four further case reports. Author(s): Varkonyi J, Rosenbaum H, Baumann N, MacKenzie JJ, Simon Z, AharonPeretz J, Walker JM, Tayebi N, Sidransky E. Source: American Journal of Medical Genetics. 2003 February 1; 116A(4): 348-51. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12522789

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Gaucher disease in a Turkish family. Author(s): Turfaner Erturk N, Karter Y, Tunckale A, Emre S, Erdogan C, Tasan E, Ozturk E. Source: Genet Couns. 2002; 13(3): 357-8. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12416646

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Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestations. Author(s): Drugan C, Procopciuc L, Jebeleanu G, Grigorescu-Sido P, Dussau J, Poenaru L, Caillaud C. Source: European Journal of Human Genetics : Ejhg. 2002 September; 10(9): 511-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12173027

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Gaucher disease type I complicated with Parkinson's syndrome. Author(s): Varkonyi J, Simon Z, Soos K, Poros A. Source: Haematologia. 2002; 32(3): 271-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12611487

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Gaucher disease type I: analysis of two cases with thalassemic facies and pulmonary arteriovenous fistulas. Author(s): Gurakan F, Kocak N, Yuce A, Ozen H. Source: Turk J Pediatr. 2001 July-September; 43(3): 237-42. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11592516

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Gaucher disease with nephrotic syndrome: response to enzyme replacement therapy. Author(s): Santoro D, Rosenbloom BE, Cohen AH. Source: American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation. 2002 July; 40(1): E4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12087590

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Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Author(s): Tayebi N, Walker J, Stubblefield B, Orvisky E, LaMarca ME, Wong K, Rosenbaum H, Schiffmann R, Bembi B, Sidransky E. Source: Molecular Genetics and Metabolism. 2003 June; 79(2): 104-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12809640

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Gaucher disease with pulmonary involvement in a 6-year-old girl: report of resolution of radiographic abnormalities on increasing dose of imiglucerase. Author(s): Lee SY, Mak AW, Huen KF, Lam ST, Chow CB. Source: The Journal of Pediatrics. 2001 December; 139(6): 862-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11743514

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Gaucher disease: from fundamental research to effective therapeutic interventions. Author(s): de Fost M, Aerts JM, Hollak CE. Source: The Netherlands Journal of Medicine. 2003 January; 61(1): 3-8. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12688562

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Gaucher disease: in vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes. Author(s): Zhao H, Bailey LA, Elsas LJ 2nd, Grinzaid KA, Grabowski GA. Source: American Journal of Medical Genetics. 2003 January 1; 116A(1): 52-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12476451

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Gaucher disease: pediatric concerns. Author(s): Elstein D, Abrahamov A, Dweck A, Hadas-Halpern I, Zimran A. Source: Paediatric Drugs. 2002; 4(7): 417-26. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12083970

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Gaucher disease: Perspectives on a prototype lysosomal disease. Author(s): Zhao H, Grabowski GA. Source: Cellular and Molecular Life Sciences : Cmls. 2002 April; 59(4): 694-707. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12022475

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Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses. Author(s): Cox TM. Source: Journal of Inherited Metabolic Disease. 2001; 24 Suppl 2: 106-21; Discussion 87-8. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11758671

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Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to diseasecausing mutations and polymorphisms. Analysis of 25 Rec NciI alleles in Gaucher disease patients. Author(s): Diaz-Font A, Cormand B, Blanco M, Chamoles N, Chabas A, Grinberg D, Vilageliu L. Source: Human Genetics. 2003 April; 112(4): 426-9. Epub 2003 February 14. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12589426

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Glucocerebrosidase level in the cerebrospinal fluid during enzyme replacement therapy--unsuccessful treatment of the neurological abnormality in type 2 Gaucher disease. Author(s): Migita M, Hamada H, Fujimura J, Watanabe A, Shimada T, Fukunaga Y. Source: European Journal of Pediatrics. 2003 July; 162(7-8): 524-5. Epub 2003 April 23. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12845529

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Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype. Author(s): Orvisky E, Park JK, LaMarca ME, Ginns EI, Martin BM, Tayebi N, Sidransky E. Source: Molecular Genetics and Metabolism. 2002 August; 76(4): 262-70. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12208131

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Glycolipid analysis of different tissues and cerebrospinal fluid in type II Gaucher disease. Author(s): Gornati R, Berra B, Montorfano G, Martini C, Ciana G, Ferrari P, Romano M, Bembi B. Source: Journal of Inherited Metabolic Disease. 2002 February; 25(1): 47-55. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11999980

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Haemostatic abnormalities and lupus anticoagulant activity in patients with Gaucher disease type I. Author(s): Barone R, Giuffrida G, Musso R, Carpinteri G, Fiumara A. Source: Journal of Inherited Metabolic Disease. 2000 June; 23(4): 387-90. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10896301

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Hematologic improvement in a patient with Gaucher disease on long-term enzyme replacement therapy: evidence for decreased splenic sequestration and improved red blood cell survival. Author(s): Parker RI, Barton NW, Read EJ, Brady RO. Source: American Journal of Hematology. 1991 October; 38(2): 130-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1951303

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Hematological findings in the Norrbottnian type of Gaucher disease. Author(s): Tibblin E, Dreborg S, Erikson A, Hakansson G, Svennerholm L. Source: European Journal of Pediatrics. 1982 November; 139(3): 187-91. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7160406

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Hematologically important mutations: Gaucher disease. Author(s): Beutler E, Gelbart T. Source: Blood Cells, Molecules & Diseases. 1998 March; 24(1): 2-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9516376

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Hematologically important mutations: Gaucher disease. Author(s): Beutler E, Gelbart T. Source: Blood Cells, Molecules & Diseases. 1997; 23(1): 2-7. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9215746

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Hepatocellular carcinoma in a patient with Gaucher disease on enzyme supplementation therapy. Author(s): Erjavec Z, Hollak CE, de Vries EG. Source: Annals of Oncology : Official Journal of the European Society for Medical Oncology / Esmo. 1999 February; 10(2): 243. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10093697

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Hepatopulmonary syndrome in Gaucher disease with right-to-left shunt: evaluation and measurement using Tc-99m MAA. Author(s): Kim JH, Park CH, Pai MS, Hahn MH, Kim HJ. Source: Clinical Nuclear Medicine. 1999 March; 24(3): 164-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10069725

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Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients. Author(s): Latham TE, Theophilus BD, Grabowski GA, Smith FI. Source: Dna and Cell Biology. 1991 January-February; 10(1): 15-21. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1899336

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Heterologous expression and characterization of a rare Gaucher disease mutation (c.481C > T) from a Canadian aboriginal population using archival tissue samples. Author(s): Sinclair G, Choy FY, Ferreira P. Source: Molecular Genetics and Metabolism. 2001 November; 74(3): 345-52. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11708865

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High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews. Author(s): Zimran A, Gelbart T, Westwood B, Grabowski GA, Beutler E. Source: American Journal of Human Genetics. 1991 October; 49(4): 855-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1897529

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High level transcription of the glucocerebrosidase pseudogene in normal subjects and patients with Gaucher disease. Author(s): Sorge J, Gross E, West C, Beutler E. Source: The Journal of Clinical Investigation. 1990 October; 86(4): 1137-41. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1698821

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High prevalence of the 55-bp deletion (c.1263del55) in exon 9 of the glucocerebrosidase gene causing misdiagnosis (for homozygous N370S (c.1226A > G) mutation) in Spanish Gaucher disease patients. Author(s): Torralba MA, Alfonso P, Perez-Calvo JI, Cenarro A, Pastores GM, Giraldo P, Civeira F, Pocovi M. Source: Blood Cells, Molecules & Diseases. 2002 July-August; 29(1): 35-40. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12482401

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Gaucher Disease

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Home treatment with enzyme replacement therapy in a 5-year-old girl with type 2 Gaucher disease. Author(s): Migita M, Shimada T, Hayakawa J, Zhi CL, Morita T, Ohshiro K, Fukunaga Y. Source: Pediatrics International : Official Journal of the Japan Pediatric Society. 2003 June; 45(3): 363-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12828600

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Home treatment with intravenous enzyme replacement therapy for Gaucher disease: an international collaborative study of 33 patients. Author(s): Zimran A, Hollak CE, Abrahamov A, van Oers MH, Kelly M, Beutler E. Source: Blood. 1993 August 15; 82(4): 1107-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8353277

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Huge subcapsular splenic hematoma in a patient with Gaucher disease. Author(s): Aharoni D, Hadas-Halpern I, Elstein D, Zimran A. Source: Isr Med Assoc J. 2000 January; 2(1): 61-2. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10892378

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Human acid beta-glucosidase. Use of conduritol B epoxide derivatives to investigate the catalytically active normal and Gaucher disease enzymes. Author(s): Grabowski GA, Osiecki-Newman K, Dinur T, Fabbro D, Legler G, Gatt S, Desnick RJ. Source: The Journal of Biological Chemistry. 1986 June 25; 261(18): 8263-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3087971

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Human acid beta-glucosidase: affinity purification of the normal placental and Gaucher disease splenic enzymes on N-alkyl-deoxynojirimycin-sepharose. Author(s): Osiecki-Newman KM, Fabbro D, Dinur T, Boas S, Gatt S, Legler G, Desnick RJ, Grabowski GA. Source: Enzyme. 1986; 35(3): 147-53. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2944742

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Human acid beta-glucosidase: inhibition studies using glucose analogues and pH variation to characterize the normal and Gaucher disease glycon binding sites. Author(s): Osiecki-Newman K, Legler G, Grace M, Dinur T, Gatt S, Desnick RJ, Grabowski GA. Source: Enzyme. 1988; 40(4): 173-88. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3234317

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Human acid beta-glucosidase: Northern blot and S1 nuclease analysis of mRNA from HeLa cells and normal and Gaucher disease fibroblasts. Author(s): Graves PN, Grabowski GA, Ludman MD, Palese P, Smith FI. Source: American Journal of Human Genetics. 1986 December; 39(6): 763-74. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3026174

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Human acid beta-glucosidase: use of inhibitors, alternative substrates and amphiphiles to investigate the properties of the normal and Gaucher disease active sites. Author(s): Osiecki-Newman K, Fabbro D, Legler G, Desnick RJ, Grabowski GA. Source: Biochimica Et Biophysica Acta. 1987 September 2; 915(1): 87-100. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2956992

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Identification and characterization of a novel mutation c.1090G>T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients. Author(s): Torralba MA, Perez-Calvo JI, Pastores GM, Cenarro A, Giraldo P, Pocovi M. Source: Blood Cells, Molecules & Diseases. 2001 March-April; 27(2): 489-95. Erratum In: Blood Cells Mol Dis 2001 May-June; 27(3): 713. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11259172

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Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients. Author(s): Grace ME, Desnick RJ, Pastores GM. Source: The Journal of Clinical Investigation. 1997 May 15; 99(10): 2530-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9153297

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Identification of a 55-bp deletion in the glucocerebrosidase gene in Gaucher disease: phenotypic presentation and implications for mutation detection assays. Author(s): Mao R, O'Brien JF, Rao S, Schmitt E, Roa B, Feldman GL, Spence WC, Snow K. Source: Molecular Genetics and Metabolism. 2001 March; 72(3): 248-53. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11243731

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Identification of a novel three-nucleotide insertion mutation (c.841-842insTGA) in the acid beta-glucosidase gene of a Taiwan Chinese patient with type II Gaucher disease. Author(s): Wu JY, Wu MC, Lee CC, Tsai FJ. Source: Human Mutation. 2001 March; 17(3): 238. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11241851

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Gaucher Disease

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Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease. Author(s): Winfield SL, Tayebi N, Martin BM, Ginns EI, Sidransky E. Source: Genome Research. 1997 October; 7(10): 1020-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9331372

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Identification of two novel and four uncommon missense mutations among chinese Gaucher disease patients. Author(s): Choy FY, Humphries ML, Shi H. Source: American Journal of Medical Genetics. 1997 August 8; 71(2): 172-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9217217

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Identification of two novel mutations, L105R and C342R, in Type I Gaucher disease. Author(s): Choy FY, Vaags A, Wong K, Macgregor D, Fernandez B, Prasad C. Source: Clinical Genetics. 2002 March; 61(3): 229-31. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12000368

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Iliopsoas hematoma in a young patient with type I Gaucher disease. Author(s): Jmoudiak M, Itzchaki M, Hadas-Halpern I, Hrebicek M, Hodanova K, Elstein D, Zimran A. Source: Isr Med Assoc J. 2003 September; 5(9): 673-4. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14509164

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Imaging and quantifying skeletal involvement in Gaucher disease. Author(s): Maas M, Poll LW, Terk MR. Source: The British Journal of Radiology. 2002; 75 Suppl 1: A13-24. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12036829

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Imino sugar therapy for type 1 Gaucher disease. Author(s): Priestman DA, Platt FM, Dwek RA, Butters TD. Source: Glycobiology. 2000 November; 10(11): Iv-Vi. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11221677

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Improvement of neurological symptoms by enzyme replacement therapy for Gaucher disease type IIIb. Author(s): Aoki M, Takahashi Y, Miwa Y, Iida S, Sukegawa K, Horai T, Orii T, Kondo N. Source: European Journal of Pediatrics. 2001 January; 160(1): 63-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11195024

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Improvement of splenomegaly and pancytopenia by enzyme replacement therapy against type 1 Gaucher disease: a report of sibling cases. Author(s): Tsuboi K, Iida S, Kato M, Hayami Y, Hanamura I, Miura K, Harada S, Komatsu H, Banno S, Wakita A, Nitta M, Ueda R. Source: International Journal of Hematology. 2001 April; 73(3): 356-62. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11345203

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Incidence of thrombophilia in patients with Gaucher disease. Author(s): Elstein D, Renbaum P, Levy-Lahad E, Zimran A. Source: American Journal of Medical Genetics. 2000 December 18; 95(5): 429-31. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11146461

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Increased operative bleeding during orthopaedic surgery in patients with type I Gaucher disease and bone involvement. Author(s): Katz K, Tamary H, Lahav J, Soudry M, Cohen IJ. Source: Bull Hosp Jt Dis. 1999; 58(4): 188-90. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10711366

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Insulin-like growth factors in childhood-onset Gaucher disease. Author(s): Rite S, Baldellou A, Giraldo P, Labarta JI, Giralt M, Rubio-Felix D, Guallar A, Perez-Calvo JI, Mayayo E, Ferrandez A, Pocovi M. Source: Pediatric Research. 2002 July; 52(1): 109-12. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12084856

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Interruption in enzyme replacement therapy for Gaucher disease. Author(s): Weinreb NJ. Source: British Journal of Haematology. 2001 June; 113(4): 1087-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11442515

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Involvement of the foot and ankle in patients with Gaucher disease. Author(s): Katz K, Kornreich L, Horev G, Ziv N, Soudry M, Cohen IJ. Source: Foot & Ankle International / American Orthopaedic Foot and Ankle Society [and] Swiss Foot and Ankle Society. 1999 February; 20(2): 104-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10063978

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Is it possible to identify siblings by studying bone marrow under a microscope? Two unusual cases of Gaucher disease. Author(s): Papla B, Machaczka M, Skotnicki AB. Source: Pol J Pathol. 2002; 53(2): 87-90. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12140872

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Gaucher Disease

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Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? Author(s): Stone DL, van Diggelen OP, de Klerk JB, Gaillard JL, Niermeijer MF, Willemsen R, Tayebi N, Sidransky E. Source: European Journal of Human Genetics : Ejhg. 1999 May-June; 7(4): 505-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10352942

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Is there a correlation between degree of splenomegaly, symptoms and hypersplenism? A study of 218 patients with Gaucher disease. Author(s): Gielchinsky Y, Elstein D, Hadas-Halpern I, Lahad A, Abrahamov A, Zimran A. Source: British Journal of Haematology. 1999 September; 106(3): 812-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10468878

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Juvenile Gaucher disease simulating osteomyelitis. Author(s): Miller JH, Ortega JA, Heisel MA. Source: Ajr. American Journal of Roentgenology. 1981 October; 137(4): 880-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6974991

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Late-infantile Gaucher disease in a child with myoclonus and bulbar signs: neuropathological and neurochemical findings. Author(s): Conradi N, Kyllerman M, Mansson JE, Percy AK, Svennerholm L. Source: Acta Neuropathologica. 1991; 82(2): 152-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1718128

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Lessons learned from the development of enzyme therapy for Gaucher disease. Author(s): Barranger JA, O'Rourke E. Source: Journal of Inherited Metabolic Disease. 2001; 24 Suppl 2: 89-96; Discussion 87-8. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11758684

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Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease. Author(s): Raghavan SS, Topol J, Kolodny EH. Source: American Journal of Human Genetics. 1980 March; 32(2): 158-73. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6770675

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Life-threatening splenic hemorrhage in two patients with Gaucher disease. Author(s): Stone DL, Ginns EI, Krasnewich D, Sidransky E. Source: American Journal of Hematology. 2000 June; 64(2): 140-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10814997

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Linkage disequilibrium of common Gaucher disease mutations with a polymorphic site in the pyruvate kinase (PKLR) gene. Author(s): Rockah R, Narinsky R, Frydman M, Cohen IJ, Zaizov R, Weizman A, Frisch A. Source: American Journal of Medical Genetics. 1998 July 7; 78(3): 233-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9677056

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Linkage of the PvuII polymorphism with the common Jewish mutation for Gaucher disease. Author(s): Zimran A, Gelbart T, Beutler E. Source: American Journal of Human Genetics. 1990 May; 46(5): 902-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1971142

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Littoral cell angioma of the spleen in a patient with Gaucher disease. Author(s): Gupta MK, Levin M, Aguilera NS, Pastores GM. Source: American Journal of Hematology. 2001 September; 68(1): 61-2. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11559940

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Liver scintigraphy in a patient with Gaucher disease. Author(s): Ohta H, Komibuchi T, Takeda H, Taniguchi T, Mihara Y, Nakano T, Shintaku M, Fujimoto M, Nasu K, Oki S, et al. Source: Ann Nucl Med. 1993 May; 7(2): 115-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8318347

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Long-term follow-up of the first successful bone marrow transplantation in Gaucher disease. Author(s): Ringden O, Groth CG, Erikson A, Backman L, Granqvist S, Mansson JE, Svennerholm L. Source: Transplantation. 1988 July; 46(1): 66-70. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3134756

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Low-dose high-frequency enzyme replacement therapy for very young children with severe Gaucher disease. Author(s): Zimran A, Hadas-Halpern I, Zevin S, Levy-Lahad E, Abrahamov A. Source: British Journal of Haematology. 1993 December; 85(4): 783-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7918044

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Low-dose high-frequency enzyme replacement therapy prevents fractures without complete suppression of painful bone crises in patients with severe juvenile onset type I Gaucher disease. Author(s): Cohen IJ, Katz K, Kornreich L, Horev G, Frish A, Zaizov R. Source: Blood Cells, Molecules & Diseases. 1998 September; 24(3): 296-302. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10087987

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Gaucher Disease

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Low-dose low-frequency imiglucerase as a starting regimen of enzyme replacement therapy for patients with type I Gaucher disease. Author(s): Elstein D, Abrahamov A, Hadas-Halpern I, Meyer A, Zimran A. Source: Qjm : Monthly Journal of the Association of Physicians. 1998 July; 91(7): 483-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9797931

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Low-dose N-butyldeoxynojirimycin (OGT 918) for type I Gaucher disease. Author(s): Heitner R, Elstein D, Aerts J, Weely S, Zimran A. Source: Blood Cells, Molecules & Diseases. 2002 March-April; 28(2): 127-33. Erratum In: Blood Cells Mol Dis. 2003 Mar-Apr; 28(2): 301. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12064906

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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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Magnetic resonance imaging of bone marrow changes in Gaucher disease during enzyme replacement therapy: first German long-term results. Author(s): Poll LW, Koch JA, vom Dahl S, Willers R, Scherer A, Boerner D, Niederau C, Haussinger D, Modder U. Source: Skeletal Radiology. 2001 September; 30(9): 496-503. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11587517

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Management of Gaucher disease in a post-communist transitional health care system: Croatian experience. Author(s): Mrsic M, Stavljenic-Rukavina A, Fumic K, Labar B, Bogdanic V, Potocki K, Kardum-Skelin I, Rovers D. Source: Croatian Medical Journal. 2003 October; 44(5): 606-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14515422

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Management of neuronopathic Gaucher disease: a European consensus. Author(s): Vellodi A, Bembi B, de Villemeur TB, Collin-Histed T, Erikson A, Mengel E, Rolfs A, Tylki-Szymanska A; Neuronopathic Gaucher Disease Task Force of the European Working Group on Gaucher Disease. Source: Journal of Inherited Metabolic Disease. 2001 June; 24(3): 319-27. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11486896

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Management of neutralizing antibody to Ceredase in a patient with type 3 Gaucher disease. Author(s): Brady RO, Murray GJ, Oliver KL, Leitman SF, Sneller MC, Fleisher TA, Barton NW. Source: Pediatrics. 1997 December; 100(6): E11. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9382912

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Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. Author(s): Boot RG, Verhoek M, de Fost M, Hollak CE, Maas M, Bleijlevens B, van Breemen MJ, van Meurs M, Boven LA, Laman JD, Moran MT, Cox TM, Aerts JM. Source: Blood. 2004 January 1; 103(1): 33-9. Epub 2003 September 11. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12969956

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Massive splenomegaly and Epstein-Barr virus-associated infectious mononucleosis in a patient with Gaucher disease. Author(s): Eapen M, Hostetter M, Neglia JP. Source: Journal of Pediatric Hematology/Oncology : Official Journal of the American Society of Pediatric Hematology/Oncology. 1999 January-February; 21(1): 47-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10029812

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Metaphyseal undertubulation in Gaucher disease: resolution at MRI in a patient undergoing enzyme replacement therapy. Author(s): Kelman CG, Disler DG. Source: Journal of Computer Assisted Tomography. 2000 January-February; 24(1): 173-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10667678

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Methotrexate selectable retroviral vectors for Gaucher disease. Author(s): Havenga MJ, Werner AB, Valerio D, van Es HH. Source: Gene Therapy. 1998 October; 5(10): 1379-88. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9930344

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Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure. Author(s): Liu Y, Suzuki K, Reed JD, Grinberg A, Westphal H, Hoffmann A, Doring T, Sandhoff K, Proia RL. Source: Proceedings of the National Academy of Sciences of the United States of America. 1998 March 3; 95(5): 2503-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9482915

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Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome. Author(s): Cormand B, Grinberg D, Gort L, Chabas A, Vilageliu L. Source: Human Mutation. 1998; 11(4): 295-305. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9554746

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Molecular biology of glucocerebrosidase and the treatment of Gaucher disease. Author(s): Barranger JA, Tomich J, Weiler S, Sakallah S, Sansieri C, Mifflin T, Bahnson A, Wei FS, Wei JF, Vallor M, et al. Source: Cytokines Mol Ther. 1995 September; 1(3): 149-63. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9384672

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Multiple hypoechoic hepatic lesions in a patient with Gaucher disease. Author(s): Patlas M, Hadas-Halpern I, Reinus C, Zimran A, Elstein D. Source: Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine. 2002 September; 21(9): 1053-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12216754

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Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation. Author(s): Cormand B, Harboe TL, Gort L, Campoy C, Blanco M, Chamoles N, Chabas A, Vilageliu L, Grinberg D. Source: American Journal of Medical Genetics. 1998 December 4; 80(4): 343-51. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9856561

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Mutation analysis of Gaucher disease using dot-blood samples on FTA filter paper. Author(s): Devost NC, Choy FY. Source: American Journal of Medical Genetics. 2000 October 23; 94(5): 417-20. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11050629

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Mutation analysis of the acid beta-glucosidase gene in a patient with type 3 Gaucher disease and neutralizing antibody to alglucerase. Author(s): Germain DP, Kaneski CR, Brady RO. Source: Mutation Research. 2001 November 1; 483(1-2): 89-94. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11600137

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Mutation analysis of type II Gaucher disease in five Taiwanese children: identification of two novel mutations. Author(s): Tsai FJ, Lee CC, Wu MC, Lin SP, Lin CY, Tsai CH, Kodama H, Wu JY. Source: Acta Paediatr Taiwan. 2001 July-August; 42(4): 231-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11550412

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Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease: identification of 11 novel mutations. Author(s): Alfonso P, Cenarro A, Perez-Calvo JI, Giralt M, Giraldo P, Pocovi M. Source: Blood Cells, Molecules & Diseases. 2001 September-October; 27(5): 882-91. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11783951

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Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup. Author(s): Park JK, Orvisky E, Tayebi N, Kaneski C, Lamarca ME, Stubblefield BK, Martin BM, Schiffmann R, Sidransky E. Source: Pediatric Research. 2003 March; 53(3): 387-95. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12595585

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Myoclonus from selective dentate nucleus degeneration in type 3 Gaucher disease. Author(s): Verghese J, Goldberg RF, Desnick RJ, Grace ME, Goldman JE, Lee SC, Dickson DW, Rapin I. Source: Archives of Neurology. 2000 March; 57(3): 389-95. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10714667

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Myoclonus in Gaucher disease. Author(s): Frei KP, Schiffmann R. Source: Adv Neurol. 2002; 89: 41-8. Review. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11968465

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Near-total splenectomy for massive splenomegaly due to Gaucher disease: a new surgical approach. Author(s): Morgenstern L, Phillips EH, Fermelia D, Weinstein IM. Source: The Mount Sinai Journal of Medicine, New York. 1986 September; 53(7): 501-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3491301

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Neonatal cholestasis and infantile Gaucher disease: a case report. Author(s): Barbier C, Devisme L, Dobbelaere D, Noizet O, Nelken B, Gottrand F. Source: Acta Paediatrica (Oslo, Norway : 1992). 2002; 91(12): 1399-401. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12578302

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Neurological outcome of a patient with Gaucher disease type III treated by enzymatic replacement therapy. Author(s): Dobbelaere D, Sukno S, Defoort-Dhellemmes S, Lamblin MD, Largilliere C. Source: Journal of Inherited Metabolic Disease. 1998 February; 21(1): 74-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9501273

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Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain. Author(s): Chabas A, Cormand B, Balcells S, Gonzalez-Duarte R, Casanova C, Colomer J, Vilageliu L, Grinberg D. Source: Journal of Inherited Metabolic Disease. 1996; 19(6): 798-800. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8982958

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Neuronopathic juvenile glucosylceramidosis due to sap-C deficiency: clinical course, neuropathology and brain lipid composition in this Gaucher disease variant. Author(s): Pampols T, Pineda M, Giros ML, Ferrer I, Cusi V, Chabas A, Sanmarti FX, Vanier MT, Christomanou H. Source: Acta Neuropathologica. 1999 January; 97(1): 91-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9930900

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Neuropathology of the Norrbottnian type of Gaucher disease. Morphological and biochemical studies. Author(s): Conradi NG, Sourander P, Nilsson O, Svennerholm L, Erikson A. Source: Acta Neuropathologica. 1984; 65(2): 99-109. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6524300

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New directions in the treatment of Gaucher disease. Author(s): Futerman AH, Sussman JL, Horowitz M, Silman I, Zimran A. Source: Trends in Pharmacological Sciences. 2004 March; 25(3): 147-51. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=15019270

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New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P. Author(s): Uchiyama A, Tomatsu S, Kondo N, Suzuki Y, Shimozawa N, Fukuda S, Sukegawa K, Taki N, Inamori H, Orii T. Source: Human Molecular Genetics. 1994 July; 3(7): 1183-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7981693

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New insights into the origin of the Gaucher disease-causing mutation N370S: extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms. Author(s): Rodriguez-Mari A, Diaz-Font A, Chabas A, Pastores GM, Grinberg D, Vilageliu L. Source: Blood Cells, Molecules & Diseases. 2001 September-October; 27(5): 950-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11783960

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New perspectives in type 2 Gaucher disease. Author(s): Sidransky E. Source: Adv Pediatr. 1997; 44: 73-107. Review. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9265968

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Non-existence of a tight association between a 444leucine to proline mutation and phenotypes of Gaucher disease: high frequency of a NciI polymorphism in the nonneuronopathic form. Author(s): Masuno M, Tomatsu S, Sukegawa K, Orii T. Source: Human Genetics. 1990 January; 84(2): 203-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1967589

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Non-neuropathic Gaucher disease presenting in infancy. Author(s): Hodson P, Goldblatt J, Beighton P. Source: Archives of Disease in Childhood. 1979 September; 54(9): 707-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=518109

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Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 Gaucher disease. Author(s): Grace ME, Ashton-Prolla P, Pastores GM, Soni A, Desnick RJ. Source: The Journal of Clinical Investigation. 1999 March; 103(6): 817-23. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10079102

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Norrbottnian type of Gaucher disease--clinical, biochemical and molecular biology aspects: successful treatment with bone marrow transplantation. Author(s): Svennerholm L, Erikson A, Groth CG, Ringden O, Mansson JE. Source: Developmental Neuroscience. 1991; 13(4-5): 345-51. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1817041

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Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patient. Author(s): Choy FY, Humphries ML, Ferreira P. Source: American Journal of Medical Genetics. 1997 January 20; 68(2): 211-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9028460

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Novel point mutation (W184R) in neonatal type 2 Gaucher disease. Author(s): Choy FY, Wong K, Vallance HD, Baldwin V. Source: Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 2000 March-April; 3(2): 180-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10679038

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N-terminal amino-acid sequence of a sphingolipid activator protein missing in a new human Gaucher disease variant. Author(s): Christomanou H, Kleinschmidt T, Braunitzer G. Source: Biol Chem Hoppe Seyler. 1987 September; 368(9): 1193-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3675870

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Obstetric aspects of Gaucher disease. Author(s): Goldblatt J, Beighton P. Source: British Journal of Obstetrics and Gynaecology. 1985 February; 92(2): 145-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3871632

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Occurrence of Parkinson's syndrome in type I Gaucher disease. Author(s): Neudorfer O, Giladi N, Elstein D, Abrahamov A, Turezkite T, Aghai E, Reches A, Bembi B, Zimran A. Source: Qjm : Monthly Journal of the Association of Physicians. 1996 September; 89(9): 691-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8917744

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Ocular motor abnormalities in Gaucher disease. Author(s): Harris CM, Taylor DS, Vellodi A. Source: Neuropediatrics. 1999 December; 30(6): 289-93. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10706022

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Ocular movements in lipid storage disease. Reports of juvenile Gaucher disease and the ophthalmoplegic lipidosis. Author(s): Sanders MD, Lake BD. Source: Birth Defects Orig Artic Ser. 1976; 12(3): 535-42. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=953203

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Oculomotor apraxia: the presenting sign of Gaucher disease. Author(s): Gross-Tsur V, Har-Even Y, Gutman I, Amir N. Source: Pediatric Neurology. 1989 March-April; 5(2): 128-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2712947

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Oculomotor deficits in Gaucher disease. Author(s): Stowens DW, Chu FC, Cogan DG, Barranger JA. Source: Prog Clin Biol Res. 1982; 95: 143-7. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7122632

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Oligosaccharide excretion in adult Gaucher disease. Author(s): de Jong JG, Aerts JM, van Weely S, Hollak CE, van Pelt J, van Woerkom LM, Liebrand-van Sambeek ML, Wevers RA. Source: Journal of Inherited Metabolic Disease. 1998 February; 21(1): 49-59. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9501269

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On the age of the most prevalent Gaucher disease-causing mutation, N370S. Author(s): Diaz A, Montfort M, Cormand B, Zeng B, Pastores GM, Chabas A, Vilageliu L, Grinberg D. Source: American Journal of Human Genetics. 2000 June; 66(6): 2014-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10801390

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Operative technique and results of subtotal splenectomy for Gaucher disease. Author(s): Guzzetta PC, Connors RH, Fink J, Barranger JA. Source: Surg Gynecol Obstet. 1987 April; 164(4): 359-62. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3563849

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Orthotopic liver transplantation in the treatment of complications of type 1 Gaucher disease. Author(s): Carlson DE, Busuttil RW, Giudici TA, Barranger JA. Source: Transplantation. 1990 June; 49(6): 1192-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2360260

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Osteomyelitis in Gaucher disease. Author(s): Bell RS, Mankin HJ, Doppelt SH. Source: The Journal of Bone and Joint Surgery. American Volume. 1986 December; 68(9): 1380-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3782210

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Outcome of partial splenectomy for type I Gaucher disease. Author(s): Zimran A, Elstein D, Schiffmann R, Abrahamov A, Goldberg M, Bar-Maor JA, Brady RO, Guzzetta PC, Barton NW. Source: The Journal of Pediatrics. 1995 April; 126(4): 596-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7699540

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Outcome of total hip arthroplasty in patients with Gaucher disease. Author(s): Lebel E, Itzchaki M, Hadas-Halpern I, Zimran A, Elstein D. Source: The Journal of Arthroplasty. 2001 January; 16(1): 7-12. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11172263

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Pathologic gene expression in Gaucher disease: up-regulation of cysteine proteinases including osteoclastic cathepsin K. Author(s): Moran MT, Schofield JP, Hayman AR, Shi GP, Young E, Cox TM. Source: Blood. 2000 September 1; 96(5): 1969-78. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10961902

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Pathologic quiz case. A 14-year-old boy with splenomegaly. Pathologic diagnosis: Gaucher disease. Author(s): Khan SB, Alkan S, Pooley R. Source: Archives of Pathology & Laboratory Medicine. 2000 August; 124(8): 1239-40. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10923094

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Pathological bone fractures preceded by sustained hypercalcaemia in type 1 Gaucher disease. Author(s): Byrne CD, Bermann L, Constant C, Cox TM. Source: Journal of Inherited Metabolic Disease. 1997 September; 20(5): 709-10. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9323569

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Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements. Author(s): Grabowski GA, Andria G, Baldellou A, Campbell PE, Charrow J, Cohen IJ, Harris CM, Kaplan P, Mengel E, Pocovi M, Vellodi A. Source: European Journal of Pediatrics. 2004 February; 163(2): 58-66. Epub 2003 December 16. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14677061

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Perinatal-lethal Gaucher disease. Author(s): Mignot C, Gelot A, Bessieres B, Daffos F, Voyer M, Menez F, Fallet Bianco C, Odent S, Le Duff D, Loget P, Fargier P, Costil J, Josset P, Roume J, Vanier MT, Maire I, Billette de Villemeur T. Source: American Journal of Medical Genetics. 2003 July 30; 120A(3): 338-44. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12838552

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Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3. Author(s): Goker-Alpan O, Schiffmann R, Park JK, Stubblefield BK, Tayebi N, Sidransky E. Source: The Journal of Pediatrics. 2003 August; 143(2): 273-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12970647

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Plasma chitotriosidase activity in Gaucher disease patients who have been treated either by bone marrow transplantation or by enzyme replacement therapy with alglucerase. Author(s): Young E, Chatterton C, Vellodi A, Winchester B. Source: Journal of Inherited Metabolic Disease. 1997 August; 20(4): 595-602. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9266398

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Plasma tumor necrosis factor-a (TNF-a) levels in Gaucher disease. Author(s): Michelakakis H, Spanou C, Kondyli A, Dimitriou E, Van Weely S, Hollak CE, Van Oers MH, Aerts JM. Source: Biochimica Et Biophysica Acta. 1996 December 16; 1317(3): 219-22. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8988238

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Platelet function abnormalities in Gaucher disease patients. Author(s): Gillis S, Hyam E, Abrahamov A, Elstein D, Zimran A. Source: American Journal of Hematology. 1999 June; 61(2): 103-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10367788

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Polymorphisms in glucosylceramide (glucocerebroside) synthase and the Gaucher disease phenotype. Author(s): Beutler E, West C. Source: Isr Med Assoc J. 2002 November; 4(11): 986-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12489486

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Pregnancy in Gaucher disease. Author(s): Sakarelou N, Kosmaidou Z, Mesogitis S, Dimitriou E, Michelakakis H. Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology. 1999 March; 83(1): 113-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10221620

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Preretinal white dots in adult-type Gaucher disease. Author(s): Wollstein G, Elstein D, Strassman I, Seelenfreund M, Zylbermann R, Zimran A. Source: Retina (Philadelphia, Pa.). 1999; 19(6): 570-1. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10606464

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Protein, glucose and energy metabolism in Gaucher disease type I. Author(s): Bodamer OA, Vellodi A. Source: Journal of Inherited Metabolic Disease. 2000 February; 23(1): 86-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10682313

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Pseudo-osteomyelitic crisis upon presentation of Gaucher disease. Author(s): Weisstein JS, Steinbach LS, Diamond CA, Huang SJ, O'Donnell RJ. Source: Skeletal Radiology. 2001 July; 30(7): 407-10. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11499783

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Pulmonary hypertension developing after alglucerase therapy in two patients with type 1 Gaucher disease complicated by the hepatopulmonary syndrome. Author(s): Dawson A, Elias DJ, Rubenson D, Bartz SH, Garver PR, Kay AC, Bloor CM, Beutler E. Source: Annals of Internal Medicine. 1996 December 1; 125(11): 901-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8967670

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Pulmonary hypertension in two patients with type I Gaucher disease while on alglucerase therapy. Author(s): Harats D, Pauzner R, Elstein D, Many A, Klutstein MW, Kramer MR, Farfel Z, Zimran A. Source: Acta Haematologica. 1997; 98(1): 47-50. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9210915

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Pulmonary involvement in type 1 Gaucher disease: functional and exercise findings in patients with and without clinical interstitial lung disease. Author(s): Miller A, Brown LK, Pastores GM, Desnick RJ. Source: Clinical Genetics. 2003 May; 63(5): 368-76. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12752568

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Pulmonary manifestations of Gaucher disease: an increased risk for L444P homozygotes? Author(s): Santamaria F, Parenti G, Guidi G, Filocamo M, Strisciuglio P, Grillo G, Farina V, Sarnelli P, Rizzolo MG, Rotondo A, Andria G. Source: American Journal of Respiratory and Critical Care Medicine. 1998 March; 157(3 Pt 1): 985-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9517621

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Quality of life assessment in adults with type 1 Gaucher disease. Author(s): Masek BJ, Sims KB, Bove CM, Korson MS, Short P, Norman DK. Source: Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation. 1999 May; 8(3): 263-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10472157

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Quantification of bone involvement in Gaucher disease: MR imaging bone marrow burden score as an alternative to Dixon quantitative chemical shift MR imaging-initial experience. Author(s): Maas M, van Kuijk C, Stoker J, Hollak CE, Akkerman EM, Aerts JF, den Heeten GJ. Source: Radiology. 2003 November; 229(2): 554-61. Epub 2003 October 02. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14526090

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Quantitative chemical shift imaging of vertebral bone marrow in patients with Gaucher disease. Author(s): Johnson LA, Hoppel BE, Gerard EL, Miller SP, Doppelt SH, Zirzow GC, Rosenthal DI, Dambrosia JM, Hill SC, Brady RO, et al. Source: Radiology. 1992 February; 182(2): 451-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1732964

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Quantitative imaging of Gaucher disease. Author(s): Rosenthal DI, Barton NW, McKusick KA, Rosen BR, Hill SC, Castronovo FP, Brady RO, Doppelt SH, Mankin HJ. Source: Radiology. 1992 December; 185(3): 841-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1438773

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Rapid genetic testing for Gaucher disease by reverse hybridization. Author(s): Halsall DJ, Kriegshauser G, Moritz A, Elsey TS, Oberkanins C. Source: Annals of Clinical Biochemistry. 2003 July; 40(Pt 4): 419-21. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12880546

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Rare compound heterozygosity for IVS2 +1G>A and R170P in an Italian patient with Gaucher disease type 1. Author(s): Concolino D, Mussari A, Filocamo M, Strisciuglio P. Source: Clinical Genetics. 2003 September; 64(3): 261-2. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12919144

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Rebound hepatosplenomegaly in type 1 Gaucher disease. Author(s): Toth J, Erdos M, Marodi L. Source: European Journal of Haematology. 2003 February; 70(2): 125-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12581195

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Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease. Author(s): Tayebi N, Stubblefield BK, Park JK, Orvisky E, Walker JM, LaMarca ME, Sidransky E. Source: American Journal of Human Genetics. 2003 March; 72(3): 519-34. Epub 2003 February 13. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12587096

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Recommendations for diagnosis, evaluation, and monitoring of patients with Gaucher disease. Author(s): Elstein D, Abrahamov A, Hadas-Halpern I, Zimran A. Source: Archives of Internal Medicine. 1999 June 14; 159(11): 1254-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10371236

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Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysis. Author(s): Chabas A, Gort L, Montfort M, Castello F, Dominguez MC, Grinberg D, Vilageliu L. Source: Journal of Medical Genetics. 1998 September; 35(9): 775-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9733040

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Remaining problems in the management of patients with Gaucher disease. Author(s): Erikson A. Source: Journal of Inherited Metabolic Disease. 2001; 24 Suppl 2: 122-6; Discussion 87-8. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11758672

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Repeat abdominal ultrasound evaluation of 100 patients with type I Gaucher disease treated with enzyme replacement therapy for up to 7 years. Author(s): Patlas M, Hadas-Halpern I, Abrahamov A, Zimran A, Elstein D. Source: The Hematology Journal : the Official Journal of the European Haematology Association / Eha. 2002; 3(1): 17-20. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11960391

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Retroviral transfer of the glucocerebrosidase gene into CD34+ cells from patients with Gaucher disease: in vivo detection of transduced cells without myeloablation. Author(s): Dunbar CE, Kohn DB, Schiffmann R, Barton NW, Nolta JA, Esplin JA, Pensiero M, Long Z, Lockey C, Emmons RV, Csik S, Leitman S, Krebs CB, Carter C, Brady RO, Karlsson S. Source: Human Gene Therapy. 1998 November 20; 9(17): 2629-40. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9853529

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Routine magnetic resonance imaging of the spine in children with Gaucher disease: does it help therapeutic management? Author(s): Olsen E OE, McHugh K, Vellodi A. Source: Pediatric Radiology. 2003 November; 33(11): 782-5. Epub 2003 September 05. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12961047

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Severe type II Gaucher disease with ichthyosis, arthrogryposis and neuronal apoptosis: molecular and pathological analyses. Author(s): Finn LS, Zhang M, Chen SH, Scott CR. Source: American Journal of Medical Genetics. 2000 March 20; 91(3): 222-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10756347

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Skeletal aspects of Gaucher disease: a review. Author(s): Wenstrup RJ, Roca-Espiau M, Weinreb NJ, Bembi B. Source: The British Journal of Radiology. 2002; 75 Suppl 1: A2-12. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12036828

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Skeletal manifestations in Gaucher disease: presentation and treatment. Author(s): Lebel E, Itzchaki M, Elstein D, Hadas-Halpern I, Abrahamov A, Zimran A. Source: Isr Med Assoc J. 1999 December; 1(4): 267-71. Review. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10731360

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Somatic mosaicism in a patient with Gaucher disease type 2: implication for genetic counseling and therapeutic decision-making. Author(s): Filocamo M, Bonuccelli G, Mazzotti R, Corsolini F, Stroppiano M, Regis S, Gatti R. Source: Blood Cells, Molecules & Diseases. 2000 December; 26(6): 611-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11358352

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Somatosensory evoked potentials as a marker of disease burden in type 3 Gaucher disease. Author(s): Garvey MA, Toro C, Goldstein S, Altarescu G, Wiggs EA, Hallett M, Schiffmann R. Source: Neurology. 2001 February 13; 56(3): 391-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11171908

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Spectrum of abdominal sonographic findings in 103 pediatric patients with Gaucher disease. Author(s): Patlas M, Hadas-Halpern I, Abrahamov A, Elstein D, Zimran A. Source: European Radiology. 2002 February; 12(2): 397-400. Epub 2001 September 07. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11870441

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Splenic lymphoma arising in a patient with Gaucher disease. A case report and review of the literature. Author(s): Bertram HC, Eldibany M, Padgett J, Dragon LH. Source: Archives of Pathology & Laboratory Medicine. 2003 May; 127(5): E242-5. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12708922

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Subarachnoid anesthesia in a patient with type I Gaucher disease. Author(s): Garcia Collada JC, Pereda Marin RM, Martinez AI, Miralles Serrano EM, Pacheco Lopez JF. Source: Acta Anaesthesiologica Scandinavica. 2003 January; 47(1): 106-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12492809

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Substrate reduction therapy: clinical evaluation in type 1 Gaucher disease. Author(s): Moyses C. Source: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences. 2003 May 29; 358(1433): 955-60. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12803929

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Substrate reduction therapy: miglustat as a remedy for symptomatic patients with Gaucher disease type 1. Author(s): Pastores GM, Barnett NL. Source: Expert Opinion on Investigational Drugs. 2003 February; 12(2): 273-81. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12556220

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Tc-99m sestamibi bone marrow scintigraphy in Gaucher disease. Author(s): Aharoni D, Krausz Y, Elstein D, Hadas-Halpern I, Zimran A. Source: Clinical Nuclear Medicine. 2002 July; 27(7): 503-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12072778

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The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation. Author(s): Brautbar A, Elstein D, Abrahamov A, Zeigler M, Chicco G, Beutler E, Scott CR, Zimran A. Source: Blood Cells, Molecules & Diseases. 2003 September-October; 31(2): 187-9; Discussion 190-1. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12972024

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The E326K mutation and Gaucher disease: mutation or polymorphism? Author(s): Park JK, Tayebi N, Stubblefield BK, LaMarca ME, MacKenzie JJ, Stone DL, Sidransky E. Source: Clinical Genetics. 2002 January; 61(1): 32-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11903352

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The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. Author(s): Orvisky E, Park JK, Parker A, Walker JM, Martin BM, Stubblefield BK, Uyama E, Tayebi N, Sidransky E. Source: Human Mutation. 2002 April; 19(4): 458-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11933202

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The interleukin-6 promoter polymorphism in Gaucher disease: a new modifier gene? Author(s): Altarescu G, Phillips M, Foldes AJ, Elstein D, Zimran A, Mates M. Source: Qjm : Monthly Journal of the Association of Physicians. 2003 August; 96(8): 5758. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12897342

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The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement. Author(s): Cox TM, Aerts JM, Andria G, Beck M, Belmatoug N, Bembi B, Chertkoff R, Vom Dahl S, Elstein D, Erikson A, Giralt M, Heitner R, Hollak C, Hrebicek M, Lewis S, Mehta A, Pastores GM, Rolfs A, Miranda MC, Zimran A; Advisory Council to the European Working Group on Gaucher Disease. Source: Journal of Inherited Metabolic Disease. 2003; 26(6): 513-26. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14605497

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Three Gaucher-disease-producing mutations in a patient with Gaucher disease: mechanism and diagnostic implications. Author(s): Beutler E, Liebman H, Gelbart T, Stefanski E. Source: Acta Haematologica. 2000; 104(2-3): 103-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11154983

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Thrombocytosis associated with enzyme replacement therapy in Gaucher disease. Author(s): Dweck A, Blickstein D, Elstein D, Zimran A. Source: Acta Haematologica. 2002; 108(2): 94-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12187028

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Type I Gaucher disease in children with and without enzyme therapy. Author(s): Dweck A, Abrahamov A, Hadas-Halpern I, Bdolach-Avram T, Zimran A, Elstein D. Source: Pediatric Hematology and Oncology. 2002 September; 19(6): 389-97. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12186361

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Type II Gaucher disease: compound heterozygote with RecNciI and L444P mutations. Author(s): Lee YS, Poh LK, Ida H, Loke KY. Source: Journal of Tropical Pediatrics. 2001 April; 47(2): 115-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11336129

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Uncoupling of blood flow and oxygen metabolism in the cerebellum in type 3 Gaucher disease. Author(s): Yoshikawa H, Fueki N, Sasaki M, Sakuragawa N. Source: Brain & Development. 1991 May; 13(3): 190-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1928613

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Unsuccessful chimeraplast strategy for the correction of a mutation causing Gaucher disease. Author(s): Diaz-Font A, Cormand B, Chabas A, Vilageliu L, Grinberg D. Source: Blood Cells, Molecules & Diseases. 2003 September-October; 31(2): 183-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12972023

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Use of activators and inhibitors to define the properties of the active site of normal and Gaucher disease lysosomal beta-glucosidase. Author(s): Gatt S, Dinur T, Osiecki K, Desnick RJ, Grabowski GA. Source: Enzyme. 1985; 33(2): 109-19. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3924590

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Use of enzyme replacement therapy for Gaucher disease during pregnancy. Author(s): Elstein D, Granovsky-Grisaru S, Rabinowitz R, Kanai R, Abrahamov A, Zimran A. Source: American Journal of Obstetrics and Gynecology. 1997 December; 177(6): 1509-12. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9423759

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Use of various diagnostic methods in a patient with Gaucher disease type I. Author(s): Farahati J, Trenn G, John-Mikolajewski V, Zander C, Pastores GM, Sciuk J, Reiners C. Source: Clinical Nuclear Medicine. 1996 August; 21(8): 619-25. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8853914

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Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S). Author(s): Bodamer OA, Church HJ, Cooper A, Wraith JE, Scott CR, Scaglia F. Source: American Journal of Medical Genetics. 2002 May 15; 109(4): 328-31. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11992489

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Vertebra disc ratio as a parameter for bone marrow involvement and its application in Gaucher disease. Author(s): Vlieger EJ, Maas M, Akkerman EM, Hollak CE, Den Heeten GJ. Source: Journal of Computer Assisted Tomography. 2002 September-October; 26(5): 8438. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12439326

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Viral infections and phenotypic heterogeneity in Gaucher disease. Author(s): Pines G, Morag A, Elstein D, Abrahamov A, Zimran A. Source: Blood Cells, Molecules & Diseases. 2001 March-April; 27(2): 358-61. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11259156

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Wandering spleen in a young girl with Gaucher disease. Author(s): Dweck A, Abrahamov A, Hadas-Halpern I, Zimran A, Elstein D. Source: Isr Med Assoc J. 2001 August; 3(8): 623-4. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11519393

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X-ray structure of human acid-beta-glucosidase, the defective enzyme in Gaucher disease. Author(s): Dvir H, Harel M, McCarthy AA, Toker L, Silman I, Futerman AH, Sussman JL. Source: Embo Reports. 2003 July; 4(7): 704-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12792654

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Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site. Author(s): Tuteja R, Tuteja N, Lilliu F, Bembi B, Galanello R, Cao A, Baralle FE. Source: Human Genetics. 1994 September; 94(3): 314-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8076951

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CHAPTER 2. NUTRITION AND GAUCHER DISEASE Overview In this chapter, we will show you how to find studies dedicated specifically to nutrition and Gaucher disease.

Finding Nutrition Studies on Gaucher 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 “Gaucher 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 “Gaucher disease” (or a synonym): •

Adult Gaucher disease in association with primary malignant bone tumors. Author(s): Department of Orthopedic Surgery, Eberhard-Karls-Universitat, HoppeSeyler-Strasse 3, 72076 Tubingen, Germany. [email protected] Source: Bohm, P Kunz, W Horny, H P Einsele, H Cancer. 2001 February 1; 91(3): 457-62 0008-543X

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Coagulation abnormalities in type 1 Gaucher disease are due to low-grade activation and can be partly restored by enzyme supplementation therapy. Author(s): Department of Internal Medicine and Haematology, Academic Medical Centre, Amsterdam, The Netherlands. Source: Hollak, C E Levi, M Berends, F Aerts, J M van Oers, M H Br-J-Haematol. 1997 March; 96(3): 470-6 0007-1048

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Complete restoration of glucocerebrosidase deficiency in Gaucher fibroblasts using a bicistronic MDR retrovirus and a new selection strategy. Author(s): Laboratory of Molecular Biology, National Cancer Institute, National Institutes of Health, Bethesda, Md 20892, USA. Source: Aran, J M Licht, T Gottesman, M M Pastan, I Hum-Gene-Ther. 1996 November 10; 7(17): 2165-75 1043-0342

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In vitro accumulation of glucocerebroside in neuroblastoma cells: a model for study of Gaucher disease pathobiology. Author(s): Division of Medical Genetics, Shriver Center for Mental Retardation, Waltham, Massachusetts, USA. Source: Prence, E M Chaturvedi, P Newburg, D S J-Neurosci-Res. 1996 February 1; 43(3): 365-71 0360-4012

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Phosphatidylcholine synthesis is elevated in neuronal models of Gaucher disease due to direct activation of CTP:phosphocholine cytidylyltransferase by glucosylceramide. Author(s): Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel. Source: Bodennec, J Pelled, D Riebeling, C Trajkovic, S Futerman, A H FASEB-J. 2002 November; 16(13): 1814-6 1530-6860

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

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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/

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

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

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

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

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CHAPTER 3. ALTERNATIVE MEDICINE AND GAUCHER DISEASE Overview In this chapter, we will begin by introducing you to official information sources on complementary and alternative medicine (CAM) relating to Gaucher 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 Gaucher 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 “Gaucher 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 Gaucher disease: •

Adult Gaucher disease in association with primary malignant bone tumors. Author(s): Bohm P, Kunz W, Horny HP, Einsele H. Source: Cancer. 2001 February 1; 91(3): 457-62. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11169926

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Association of Hodgkin disease and Gaucher disease. Author(s): Sharer LR, Barondess JA, Silver RT, Gray GF. Source: Arch Pathol. 1974 December; 98(6): 376-8. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4418365

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Characterization of the cytoplasmic inclusion bodies of the spleens from patients with adult form Gaucher's disease. Author(s): Ebato H, Abe T, Yamakawa T, Nagashima K.

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Source: Journal of Biochemistry. 1980 December; 88(6): 1765-72. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6257671 •

Collaborative research. Author(s): Graham OC, Harnett NE, Harrison E, Considine E. Source: The Journal of Neuroscience Nursing : Journal of the American Association of Neuroscience Nurses. 1994 April; 26(2): 121-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8077774

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Complete restoration of glucocerebrosidase deficiency in Gaucher fibroblasts using a bicistronic MDR retrovirus and a new selection strategy. Author(s): Aran JM, Licht T, Gottesman MM, Pastan I. Source: Human Gene Therapy. 1996 November 10; 7(17): 2165-75. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8934230

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Creating the costliest orphan. The Orphan Drug Act in the development of Ceredase. Author(s): Goldman DP, Clarke AE, Garber AM. Source: International Journal of Technology Assessment in Health Care. 1992 Fall; 8(4): 583-97. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1464480

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Deterioration of the auditory brainstem response in children with type 3 Gaucher disease. Author(s): Campbell PE, Harris CM, Vellodi A. Source: Neurology. 2004 July 27; 63(2): 385-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=15277647

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Gaucher's disease. Author(s): Lewis S. Source: Journal of the Royal Society of Medicine. 1992 November; 85(11): 714. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1474570

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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

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Non-Hodgkin's lymphoma associated with Gaucher's disease. Author(s): Perales M, Cervantes F, Cobo F, Montserrat E.

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Source: Leukemia & Lymphoma. 1998 November; 31(5-6): 609-12. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9922052 •

Plasma chitotriosidase activity in patients with beta-thalassemia. Author(s): Barone R, Di Gregorio F, Romeo MA, Schiliro G, Pavone L. Source: Blood Cells, Molecules & Diseases. 1999 February; 25(1): 1-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10349508

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Sphingomyelinase in normal human spleens and in spleens from subjects with Niemann-Pick disease. Author(s): Schneider PB, Kennedy EP. Source: Journal of Lipid Research. 1967 May; 8(3): 202-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4962590

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/

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AOL: http://search.aol.com/cat.adp?id=169&layer=&from=subcats

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

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

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

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

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

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

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

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

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

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

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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.

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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. PATENTS ON GAUCHER DISEASE Overview Patents can be physical innovations (e.g. chemicals, pharmaceuticals, medical equipment) or processes (e.g. treatments or diagnostic procedures). The United States Patent and Trademark Office defines a patent as a grant of a property right to the inventor, issued by the Patent and Trademark Office.8 Patents, therefore, are intellectual property. For the United States, the term of a new patent is 20 years from the date when the patent application was filed. If the inventor wishes to receive economic benefits, it is likely that the invention will become commercially available within 20 years of the initial filing. It is important to understand, therefore, that an inventor’s patent does not indicate that a product or service is or will be commercially available. The patent implies only that the inventor has “the right to exclude others from making, using, offering for sale, or selling” the invention in the United States. While this relates to U.S. patents, similar rules govern foreign patents. In this chapter, we show you how to locate information on patents and their inventors. If you find a patent that is particularly interesting to you, contact the inventor or the assignee for further information. IMPORTANT NOTE: When following the search strategy described below, you may discover non-medical patents that use the generic term “Gaucher disease” (or a synonym) in their titles. To accurately reflect the results that you might find while conducting research on Gaucher disease, we have not necessarily excluded nonmedical patents in this bibliography.

Patents on Gaucher Disease By performing a patent search focusing on Gaucher disease, you can obtain information such as the title of the invention, the names of the inventor(s), the assignee(s) or the company that owns or controls the patent, a short abstract that summarizes the patent, and a few excerpts from the description of the patent. The abstract of a patent tends to be more technical in nature, while the description is often written for the public. Full patent descriptions contain much more information than is presented here (e.g. claims, references, figures, diagrams, etc.). We will tell you how to obtain this information later in the chapter. 8Adapted

from the United States Patent and Trademark Office: http://www.uspto.gov/web/offices/pac/doc/general/whatis.htm.

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The following is an example of the type of information that you can expect to obtain from a patent search on Gaucher disease: •

Assay for a new Gaucher disease mutation Inventor(s): Beutler; Ernest (La Jolla, CA), Sorge; Joseph A. (Rancho Santa Fe, CA) Assignee(s): The Scripps Research Institute (La Jolla, CA) Patent Number: 5,234,811 Date filed: September 27, 1991 Abstract: A method for detecting a new Gaucher disease mutation in an allele in a human having an insertion mutation of a guanine nucleotide adjacent to nucleotide position 57 in the normal glucocerebrosidase gene exon 2 is provided. Identification of the mutation is accomplished by first amplifying, with a polymerase chain reaction (PCR) primer, a region of human genomic DNA containing nucleotide positions 57 and 58 of glucocerebrosidase gene exon 2 followed by detection of the mutation. Excerpt(s): The present invention relates to a method for detecting a Gaucher disease allele in a human having an insertion mutation of a guanine nucleotide adjacent to nucleotide position 57 in the normal glucocerebrosidase gene exon 2. Gaucher disease is an autosomal recessive disorder caused by a deficiency of glucocerebrosidase, the enzyme that is required for the lysosomal degradation of lipids containing covalently bound sugars (glycolipids). Brady et al., J. Biol. Chem., 240:39-43 (1965). In the absence of glucocerebrosidase, the extremely insoluble glucosylceramide (glucocerebroside) accumulates. The gene for glucocerebrosidase is located on chromosome-1 in the region of q21. See, Shafit-Zagardo et al., Am. J. Hum Genet., 33:564-575 (1981); Ginns et al., Proc. Natl. Acad. Sci., U.S.A., 82:7101-7105 (1985). The fact that a number of different mutations caused Gaucher disease was inferred from clinical observations (Beutler, Genetic Diseases Among Ashkenazi Jews, eds. Boudman et al., Raven Press, NY, pp. 157-169 (1979)) and from differences in the kinetic properties of the residual enzyme in different patients with the disorder. Grabowski et al., Am J. Hum. Genet., 37:499-510 (1985). However, real understanding of the genetics of this disease has had to await the cloning and sequencing of the cDNA (Sorge et al., Proc. Natl. Acad. Sci., U.S.A., 82:72897293 (1985) and Tsuji et al., N. Engl. J. Med., 316:570-621 (1987)) and of the gene (Horowitz et al., Genomics, 4:87-96 (1989)). Analysis of mutations is complicated by the existence of a pseudogene which is approximately 16 kilobases (Kb) downstream from the glucocerebrosidase gene. Zimran et al., J. Clin. Invest., 86:1137-1141 (1990). The pseudogene is about 95% homologous to the functional gene. It is transcribed (Sorge et al., J. Clin. Invest., 86:1137-1141 (1990)), but cannot be translated into glucocerebrosidase because of numerous deletions of coding sequences. Web site: http://www.delphion.com/details?pn=US05234811__

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Gene therapy for Gaucher disease using retroviral vectors Inventor(s): Bahnson; Alfred B. (Pittsburgh, PA), Barranger; John A. (Gibsonia, PA), Robbins; Paul (Pittsburgh, PA) Assignee(s): University of Pittsburgh (Pittsburgh, PA) Patent Number: 5,911,983 Date filed: June 6, 1995

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Abstract: The present invention relates to gene therapy for Gaucher disease using retroviral vectors which express the glucocerebrosidase gene. Methods are provided for transduction of autologous hematopoietic stem cells (e.g., human CD34+ cells) with these vectors and for transplantation of the transduced cells into a Gaucher disease patient to provide therapeutically effective levels of glucocerebrosidase activity. The invention also provides for retroviral vectors that express the glucocerebrosidase gene, and for human hematopoietic cells that contain the retroviral vector. Excerpt(s): Gaucher disease is the name given to a group of lysosomal storage disorders caused by mutations in the gene that codes for an enzyme called glucocerebrosidase ("GC"). Gaucher disease is caused by deficiency of GC as reported by Patrick, A. D., Biochem. J. 97:17C (1965) and Brady, R. O., et al., Biochem. Biophys. Res. Commun. 18:221 (1965). All of the mutations in the gene alter the structure and function of the enzyme which lead to an accumulation of the undegraded glycolipid substrate glucosylceramide, also called glucocerebroside, in cells of the reticuloendothelial system. Each particular mutation of the human GC gene leads to a clinical disease collectively known as Gaucher disease. These disorders are usually classified into three types; type 1 (non-neuronopathic), type 2 (acute neuronopathic) and type 3 (subacute neuronopathic), the type depending on the presence and severity of neurologic involvement. Gaucher disease is the most prevalent Jewish genetic disease and the most common lysosomal storage disease. Human GC cDNA was first cloned as described by Ginns, E. I., et al., Biochem. Biophys. Res. Commun. 123:574 (1984). Subsequent characterizations of other GC cDNA clones by, for example, Sorge, J., et al., Proc. Nat. Acad. Sci. USA 82:7289 (1985) and Tsuji, S., et al., J. Biol. Chem. 261:50 (1986), have led to the elucidation of the complete nucleotide sequence of human GC. As reported by Ginns, E. I., et al., Proc. Nat. Acad. Sci. USA 82:7101 (1985), the GC gene was localized to human chromosome lq21 by in situ hybridization. Tsuji, S., et al., New Enql. J. Med. 316:570 (1987), have shown that the GC gene comprises 11 exons and 10 introns spanning approximately 7 Kb. While more than twenty mutations in the human GC gene are known, only two are common. See, Tsuji, S., et al., Proc. Natl. Acad. Sci. USA 85:2349 (1988). The two common mutations account for approximately 70% of the mutant alleles, as reported by Firon, N., et al., Am. J. Hum. Genet. 46:527 (1990). Mutant GC genes code for aberrant proteins that are either catalytically altered or unstable and rapidly disappear from the cell. Web site: http://www.delphion.com/details?pn=US05911983__ •

Products and methods for Gaucher disease therapy Inventor(s): Callahan; John W. (Mississauga, CA), Clarke; Joe T. R. (Toronto, CA), Mahuran; Don J. (Toronto, CA) Assignee(s): HSC Research & Development Limited Partnership (CA) Patent Number: 6,696,272 Date filed: June 2, 2000 Abstract: The invention relates to products and methods for medical treatment of Gaucher disease and, in particular, an improved Gcc DNA for insertion into any applicable expression vector for gene therapy treatment. The invention includes an isolated Gcc DNA molecule, wherein nucleic acid molecules have been modified at cryptic splice sites to prevent or decrease splicing of mRNA produced from the DNA molecule, while preserving the ability of the DNA to express functional Gcc polypeptides.

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Excerpt(s): The invention relates to products and methods for medical treatment of Gaucher disease and, in particular, nucleic acid molecules, polypeptides and vectors for polypeptide or gene therapy treatment. Gaucher disease is a lysosomal storage disease caused by the deficiency of functional glucocerebrosidase (Gcc) enzyme. Gcc is present in all cell types. The defective enzyme cannot break down a fatty substance, glucocerebroside, which is an important component of cell membranes. The fat accumulates in macrophages (which are known as the "Gaucher cells"). The fat-laden macrophages are found typically in the liver, spleen, bone marrow and lungs. The amount of the enzyme deficiency varies from person to person as do the symptoms. Some patients may show no clinical symptoms, while others may die from the disease. The symptoms of the disease and mutant forms of Gcc that cause Gaucher disease are described, for example, in U.S. Pat. No. 5,266,459 (Beutler) and U.S. Pat. No. 5,234,811 (Beutler and Sorge). There are therapies for Gaucher disease. Ceredase is a form of the Gcc enzyme from placenta that is able to metabolize the fat in Gaucher cells. The enzyme restores normal function to a Gaucher cell. The amount of enzyme used in treatment varies. As much as 30-60 units per kilogram of bodyweight (U/kg/bw) may be given every other week. Positive results have been reported with 2.3 U/kg/bw given three times a week. Lower doses, such as 1-5 U/kg/bw twice weekly, have also been used with success, but this is less frequent. The intarcellular half life of the enzyme is up to 60 hours. A large number of placentas are needed to make sufficient Ceredase, so this form of therapy is very expensive. It has been almost completely replaced by treatment with a recombinant form of the enzyme, Cerezyme but this therapy is also expensive. Cerezyme is dispensed as a powder whereas Ceredase comes as a liquid. Sterile water must be added to the Cerezyme bottle to dissolve the powder. The shelf life of the drugs is short (