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         Gauchers Disease:     more books (38)
  1. Gaucher disease : January 1984 through January 1995, plus selected earlier citations : 594 citations (SuDoc HE 20.3615/2:95-1) by Marian E. Beratan, 1995
  2. Gaucher's disease: A nurse's handbook by Carol Kari, 1985
  3. Gaucher disease : January 1984 through January 1995 : 594 citations (SuDoc HE 20.3615/2:95-1) by Marian E. Beratan, 1995
  4. Gaucher disease (1882-1982): Centennial perspectives on the most prevalent Jewish genetic disease by Robert J Desnick, 1982
  5. Recognizing Type 1 Gaucher Disease: Patient Prospectives: An Educational Video ( by Elliott Gould, 2006
  6. Diseases of the skin: Including radiotherapy and radiumtherapy by Ernest Gaucher, 1910
  7. Gale Encyclopedia of Medicine: Lipidoses by Altha Roberts Edgren, 2002-01-01
  8. Lipidoses: An entry from Thomson Gale's <i>Gale Encyclopedia of Children's Health: Infancy through Adolescence</i> by Tish, A.M. Davidson, Altha Edgren, 2006
  9. Lipidoses: An entry from Gale's <i>Gale Encyclopedia of Medicine, 3rd ed.</i> by Altha Edgren, 2006
  10. Lives of Value by Sharleen Cooper Cohen, 2006-07-06

41. Gaucher Disease
Search. Rare / Orphan diseases, Gaucher disease Guide picks. A hereditary disorder of glucocerebroside metabolism. gauchers Association
http://rarediseases.about.com/cs/gaucherdisease/
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Subscribe to the About Rare / Orphan Diseases newsletter. zau(256,152,100,'hs','http://z.about.com/5/ad/hs.htm?zIhsid=00',''); Search Rare / Orphan Diseases Gaucher disease
Guide picks A hereditary disorder of glucocerebroside metabolism.
Gauchers Association UK

Provides news, links, email list and chat, and physician list. Living With Gaucher Disease
A comprehensive online brochure from the Gaucher Disease Treatment Program at Massachusetts General Hospital in Boston. Lysosomal Diseases Australia Newsletter
News and information about storage diseases. Requires Adobe Acrobat Reader for PDF files. Lysosomal Storage Diseases Support Group
This group, based in New Zealand, provides information, newsletter, latest research, and links. National Gaucher Foundation
Provides information, resources, and links.

42. Bbc.co.uk - Health - Illnesses And Conditions Gaucher's Disease
Find out about gaucher s disease, treatment of the condition and where to go for support.
http://www.bbc.co.uk/health/conditions/gauchers.shtml
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Gaucher's Disease by Dr Trisha Macnair and Dr Rob Hicks What are the symptoms? Screening is available Gaucher's disease was first described by a French physician called Philippe Charles Ernest Gaucher in 1882. It's a rare genetic metabolic disorder, of a type often known as a storage disease - and results from a specific enzyme deficiency in the body. People with Gaucher disease lack the normal form of an enzyme called glucocerebrosidase and are unable to break down a chemical called glucocerebriside which remains stored in macrophage cells and stops them from functioning normally. It's called a 'storage disease' because these cells are 'stored' and accumulate in various parts of the body such as the liver, spleen, lungs, lymph system and bones, instead of being expelled. In more severe cases, which affect young children, they also accumulate in the central nervous system. What are the symptoms?

43. »»Gauchers-Disease Reviews««
gauchersdisease Reviews. Related Subjects Gallstones. Book reviews for gauchers-disease sorted by average review score Genetic
http://www.health-issue-books.com/Gallstones/Gauchers-Disease/
Gauchers-Disease Reviews
Related Subjects: Gallstones Book reviews for "Gauchers-Disease" sorted by average review score: Genetic Disorders Sourcebook: Basic Information About Heritable Diseases and Disorders Such As Down Synd Rome, Pku, Hemophilia, Von Willebrand Disease, Gaucher Disease, Tay-Sachs d (Health Reference Series, Vol 13) Published in Hardcover by Omnigraphics, Inc. (August, 1996) Author: Karen Bellenir Amazon base price:
Used price:
Collectible price: Average review score:
No reviews found. DESNICK GAUCHER DISEASE - A CENTURY OF DELINEATI ON AND RESEARCH Published in Hardcover by John Wiley and Sons Ltd (17 November, 1982) Author: RJ DESNICK Amazon base price: Average review score: No reviews found. Federal and private roles in the development and provision of alglucerase therapy for Gaucher disease Published in Unknown Binding by Office of Technology Assessment (1992) Amazon base price: Average review score: No reviews found. Gaucher disease : January 1984 through January 1995 : 594 citations (SuDoc HE 20.3615/2:95-1) Published in Unknown Binding by U.S. Dept. of Health and Human Services, Public Health Service, National Institutes of Health, National Library of Medicine, Reference Section Supt. of Docs., U.S. G.P.O, distributor (1995)

44. Nutritional And Metabolic Diseases
Gaucher disease. Gaucher disease (US). gauchers Association Contents Page - (UK). Gaucher s disease Service at Addenbrooke s - (UK).
http://www.mic.ki.se/Diseases/C18.html
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Diseases and Disorders Links pertaining to Nutritional and Metabolic Diseases Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Acid-Base Imbalance Acidosis Alkalosis Alkaptonuria ... Wolman Disease
Nutritional and Metabolic Diseases FDA Center for - (US) International Union of Nutritional Sciences - (AU) The Nutrition Navigator (rating guide) at Tufts University The USDA Nutrient Database for Standard Reference, rel 13 - (US) NATS - Nutritional Analysis Tool and System About some Diagnostic Tests Used in Evaluation of Malabsorption www.FoodSafety.gov Food Safety including a list of Organisms of concern - N Carolina Coop. Ext. Serv. (US) About Food Irradiation - BFE (DE) Facts about Food Irradiation - IAEA (AT) The British Nutrition Foundation Int'l Food Information Council , including a page on Food Additives , and

45. Mature Megakaryocyte, PAS Stain, Gaucher's Disease Marrow
Mature megakaryocyte, PAS stain, Gaucher s disease marrow. One PAS positive mature megakaryocyte. gauchers disease marrow. PAS stain 100X.
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Mature megakaryocyte, PAS stain, Gaucher's disease marrow
One PAS positive mature megakaryocyte. Gauchers' disease marrow. PAS stain - 100X Image ID: 2661-090 Carden Jennings Publishing Co., Ltd.

46. Canadian Directory Of Genetic Support Groups
Gaucher s disease National Gaucher Foundation of Canada Canadian Society for Mucopolysaccharide Related disease Inc. National
http://www.lhsc.on.ca/programs/medgenet/gauchers.htm

Index by
support group Canadian Directory of Genetic Support Groups
Gaucher's Disease
National Gaucher Foundation of Canada

Children Living with Inherited Metabolic Diseases (CLIMB)

Page revised: February 10, 2004 Maintained by: Janice Little
Index by disease/ disorder

Return to Programs and Services Questions? Comments? Contact Janice Little London Health Sciences Centre . Please read our

47. 24Dr.com Reference Library Congenital Conditions - Gaucher's Disease
GAUCHER S disease. National Institute of Neurological Disorders and Stroke. Three clinical forms (phenotypes) of Gaucher s disease are commonly recognized.
http://www.24dr.com/reference/library/congenital/gauchers/gauchers.htm
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GAUCHER'S DISEASE
National Institute of Neurological Disorders and Stroke
Description
Gaucher's disease is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and, in rare cases, the brain. Three clinical forms (phenotypes) of Gaucher's disease are commonly recognized. The first category, called type 1, is by far the most common. Patients in this group usually bruise easily and experience fatigue due to anemia, low blood platelets, enlargement of the liver and spleen, weakening of the skeleton, and in some instances, lung and kidney impairment. There are no signs of brain involvement. The onset of clinical manifestations may be early in life, or delayed until adulthood. The second group is classified as type 2. In this form, liver and spleen enlargement are apparent by 3 months of age. In addition, there is extensive and progressive brain damage. These patients usually die by 2 years of age.

48. Genetic Catalog - METABOLIC DISEASES
Gaucher disease. Gaucher disease The Human Gene Map; Gaucher disease - GeneClinic-review2000; gauchers mini fact sheet; Gaucher disease
http://www.rusmedserv.com/genetics/catalog/links79.htm
METABOLIC DISEASES
General Aspects
Database of Metabolic Disesases
Memrane Transport Systems
Mitochondrial Disease
Organic Acid

49. CrossDots.com - Searching The WEB !
Health Library Gaucher disease. Important It is possible that the main title of the report Gaucher disease is not the name you expected. Please
http://www.searchdirect.org/gauchers-disease.html
searchdirect.org Search the web ! enter your keywords here : Keywords : disease gauchers "This book has been created for patients who have decided to make education and research an integral part of the treatment process." www.icongrouponline.com Related Searches Auction Popular Searches (listed in alphabetical order) Adventure Travel Airline Tickets Arts Auction Books Cars Chat Computer Games Computer Hardware Computers Cooking Crafts Credit Cards Cruises Dvd Electronics Entertainment Finance Fitness Flowers Furniture Games Gardening Gift Baskets Gifts Greeting Card Health Health Insurance Hobbies Home Home Buying Home Decorating Home Improvement

50. The NTSAD Diseases Family: Gaucher Disease
This overview focuses on Type I Gaucher disease, the most common form of the disease. Gaucher disease, like TaySachs, is an autosomal recessive disorder.
http://www.ntsad.org/pages/gaucher.htm
Gaucher Disease
IN 1882, PHILLIPE GAUCHER, A French physician, described the clinical disorder that now bears his name. Since his original description, many investigators have contributed to our understanding of Gaucher Disease. In the early 1900's, American physicians were the first to recognize its familial transmission and to characterize further the pathology of the disease. Although early investigations suggested that the disease was due to a metabolic disorder, it was not until 1965 that the specific metabolic defect, a deficiency in the enzyme glucocerebrosidase, was identified. We now recognize that the disease has three subtypes: Type I, II and III. A ll three types of Gaucher Disease are inherited storage diseases, and all result from the deficiency of an enzyme called glucocerebrosidase, which is necessary for the breakdown of a particular fatty substance, glucocerebroside. This fatty substance is normally present in very small amounts in all body cells, but in patients with Gaucher Disease, glucocerebroside is not broken down as it should be and becomes abnormally stored, primarily in unique cells called Gaucher cells. T he major disease manifestations are due to the progressive storage of glucocerebroside in Gaucher cells in the bone marrow, spleen and liver. Gaucher cells in the bone marrow can cause bone and joint pain, fractures and other orthopedic problems. Accumulation of Gaucher cells in the spleen and liver causes enlargement of these organs as well as blood abnormalities such as anemia, easy bruising and impaired blood clotting. In a small number of persons with Gaucher Disease, glucocerebroside also accumulates in the central nervous system, leading to neurological damage.

51. MedlinePlus: Gaucher's Disease
Gaucher s disease. Printerfriendly version, E-mail this page to a friend. Search MEDLINE for recent research articles on • Gaucher s disease.
http://www.nlm.nih.gov/medlineplus/gauchersdisease.html
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52. NINDS Gaucher's Disease Information Page
Gaucher's disease information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). What is Gaucher's disease? Is there any treatment What is Gaucher's disease? Gaucher disease is an inherited clinical forms (phenotypes) of Gaucher disease are commonly recognized
http://www.ninds.nih.gov/health_and_medical/disorders/gauchers_doc.htm
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Table of Contents (click to jump to sections) What is Gaucher's Disease?
Is there any treatment?

What is the prognosis?
What research is being done? ... Additional resources from MEDLINEplus What is Gaucher's Disease? Gaucher disease is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and, in rare cases, the brain. Three clinical forms (phenotypes) of Gaucher disease are commonly recognized. The first category, called type 1

53. Gaucher Disease / Family Village Library
Gaucher disease. Currently, the NGF is funding groundbreaking research on the gene replacement therapy which would ultimately cure Gaucher disease.
http://www.familyvillage.wisc.edu/lib_gauc.htm
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National Gaucher Foundation
5410 Edson Lane, Suite 260
Rockville, MD 20852-3130
Toll-free: 800-428-2437
Phone: 301-816-1515
Fax: 301-816-1516
E-mail: ngf@gaucherdisease.org Web: http://www.gaucherdisease.org/ The National Gaucher Foundation (NGF) was established in 1984 as a non-profit, tax exempt organization dedicated to supporting and promoting research into the causes of, and a cure for Gaucher Disease. The mission of the NGF is to find a cure for Gaucher Disease by funding vital research programs, to meet the ever- increasing needs of patients and families, as well as to promote community/physician awareness and educational programs. The NGF offers a variety of services and programs including regional chapter meetings, patient support groups, international conferences, as well as the CARE Program and the Care+Plus Program which provide critical financial assistance to individuals with Gaucher Disease. The NGF also publishes a quarterly newsletter featuring informative columns about exercise, medical questions, personal stories and research updates. There is a $35 membership fee which entitles members to a 12 month subscription to the Gaucher Disease Newsletter, discounts on conferences and seminar registrations, and all NGF publications and materials. The NGF has funded millions of dollars in research dealing with various enzyme replacement therapies, alternative treatments and gene therapy. Currently, the NGF is funding ground-breaking research on the gene replacement therapy which would ultimately cure Gaucher Disease. Success in this research would lead the way to finding cures for hundreds of genetic disorders.

54. Gaucher Disease
OMIM catalog of human genes and disorders. Websites. National Gaucher Foundation supporting research into the causes of Gaucher disease. Search.
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.sect

55. OMIM - Online Mendelian Inheritance In Man
GAUCHER disease, TYPE I. GD I GAUCHER disease, NONCEREBRAL JUVENILE GLUCOCEREBROSIDASE DEFICIENCY ACID BETAGLUCOSIDASE DEFICIENCY GBA DEFICIENCY.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=OMIM&dopt=Detailed

56. Gaucher Disease - Patient Support - For Patients And Families - Genetics Home Re
Gaucher disease. Back to condition summary. Gaucher disease. Patient support For patients and families. These resources supplement
http://ghr.nlm.nih.gov/condition=gaucherdisease/show/Patient support
A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Gaucher disease
Gaucher disease
Patient support - For patients and families
These resources supplement the information in the Genetics Home Reference condition summary on Gaucher disease. Last Comprehensive Review: May 2004 Updated: May 19, 2004 Published: May 28, 2004 This is a page from Genetics Home Reference Contact Us Lister Hill National Center for Biomedical Communications U.S. National Library of Medicine ... Accessibility

57. Gaucher Disease
Gaucher disease Menu. This is a webforum to discuss and comment on Gaucher disease. Click here to Enter a new Neurology WebForum article
http://neuro-www.mgh.harvard.edu/forum/GaucherDiseaseMenu.html
Gaucher Disease Menu
This is a webforum to discuss and comment on Gaucher Disease. Click here to Enter a new Neurology WebForum article...
This Web Forum is not moderated in any sense. Anyone on the Internet can post articles or reply to previously posted articles, and they may do so anonymously. Therefore, the opinions and statements made in all articles and replies do not represent the official opinions of MGH and MGH Neurology. Neither is MGH or MGH Neurology responsible for the content of any articles or replies. No messages are screened for content. - Very Important Message! - Please Click Here to Read Current Posts: Oct 10, 1997 to Present Useful Websites can be found and posted here! IMPORTANT: If this page seems to be missing recently added documents, click the "Reload Page" button on your Web Browser to update the menu. Return to the main Neurology WebForum Page. These forums are maintained by the Department of Neurology at Massachusetts General Hospital
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58. BUBL LINK / 5:15 Internet Resources: Gaucher Disease
Addenbrooke s Gaucher s disease Service An advisory service for patients and families with Gaucher s disease. The service includes
http://bubl.ac.uk/link/g/gaucherdisease.htm
BUBL LINK / 5:15 Catalogue of Internet Resources Home Search Subject Menus A-Z ... About
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  • Addenbrooke's Gaucher's Disease Service
  • Gaucher Disease: Current Issues in Diagnosis and Treatment
  • Gaucher Disease
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  • National Tay-Sachs and Allied Diseases Association: Gaucher Disease Page last updated: 17 March 2003 Comments: bubl@bubl.ac.uk
    Addenbrooke's Gaucher's Disease Service
    An advisory service for patients and families with Gaucher's disease. The service includes full clinical assessment of Gaucher's patients, advice on general medical and specialist needs e.g. pregnancy, surgical procedures, and patient review.
    Author: Addenbrooke's Hospital
    Subjects: gaucher disease
    DeweyClass:
    ResourceType:
    documents
    Location: uk
    Last checked:
    Gaucher Disease: Current Issues in Diagnosis and Treatment
    Report on a Technology Assessment Conference evaluating the diagnosis and treatment of Gaucher disease. Screening, genetic counselling, and management are covered, as is the natural history of the disease, roles of current molecular and enzymatic assays, appropriate modes of therapy, goals for and consequences of treatment, genotype/phenotype correlation usage and appropriate directions for future research.
    Author: National Institutes of Health
    Subjects: gaucher disease
    DeweyClass:
    ResourceType:
    article Location: usa Last checked:
    Gaucher Disease
    Information about Gaucher disease, a lipid-storage disorder. Includes details of symptoms, prevalence, transmission, and therapy.
  • 59. Gaucher Disease
    Gaucher disease Important It is possible that the main title of the report Gaucher disease is not the name you expected. Please
    http://my.webmd.com/hw/health_guide_atoz/nord12.asp
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    You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Gaucher Disease Important It is possible that the main title of the report Gaucher Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms
    • Sphingolipidosis 1
    Disorder Subdivisions
    • Type I Gaucher Disease Type II Gaucher Disease Type III Gaucher Disease Norrbottnian Gaucher Disease
    General Discussion Gaucher disease is categorized as a lysosomal storage disorder. Lysosomes are the major digestive units in cells. Enzymes within lysosomes break down or "digest" nutrients, including certain complex carbohydrates and fats. In Gaucher disease certain fats, known as glycolipids, abnormally accumulate in the body because of the lack of the enzyme, glucocerebrosidase. This accumulation or "storage" of lipids leads to the various symptoms or physical findings associated with a lysosomal storage disease. Gaucher disease is the most common type of lysosomal storage disorder. Resources Vaincre Les Maladies Lysosomales 9 Place du 19 Mars 1962

    60. Gaucher Disease
    Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities
    http://www.bchealthguide.org/kbase/nord/nord12.htm
    document.write(''); var hwPrint=1; var hwDocHWID="nord12"; var hwDocTitle="Gaucher Disease"; var hwRank="1"; var hwSectionHWID="nord12"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD";
    National Organization for Rare Disorders, Inc.
    Gaucher Disease
    Important
    It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
    Synonyms
    • Sphingolipidosis 1
    Disorder Subdivisions
    • Type I Gaucher Disease Type II Gaucher Disease Type III Gaucher Disease Norrbottnian Gaucher Disease
    Related Disorders List
    Information on the following diseases can be found in the Related Disorders section of this report:
    • Niemann-Pick Disease Pompe Disease Hurler Disease Tay-Sachs Disease.
    General Discussion
    Gaucher disease is categorized as a lysosomal storage disorder. Lysosomes are the major digestive units in cells. Enzymes within lysosomes break down or "digest" nutrients, including certain complex carbohydrates and fats. In Gaucher disease certain fats, known as glycolipids, abnormally accumulate in the body because of the lack of the enzyme, glucocerebrosidase. This accumulation or "storage" of lipids leads to the various symptoms or physical findings associated with a lysosomal storage disease. Gaucher disease is the most common type of lysosomal storage disorder.
    Symptoms
    Researchers have identified three distinct forms of Gaucher disease separated by the absence (Type I) or presence and extent (Type II or Type III) of neurological complications. The majority of affected individuals have Gaucher disease type I, which lacks any neurological complications. The specific symptoms present in individuals with Gaucher disease vary greatly from case to case. Some individuals exhibit few or no symptoms (asymptomatic); others experience chronic, and sometimes severe, complications.

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