1. Gaucher Disease Gaucher disease Information for patients, relatives, doctors and researchers from an independent charity. disease, Gaucher's disease, gauchers disease Gaucher disease, Gaucher's disease, gauchers disease, Gaucher disease, Gaucher's disease, gauchers disease disease, gauchers disease http://www.gaucher.org.uk/

GAUCHER DISEASE Gaucher disease is an inherited, enzyme deficiency, disorder. Symptoms range from mild to severe and can appear at any time, from infancy to old age. These Gaucher symptons may include anaemia, fatigue, easy bruising and a tendency to bleed. An enlarged spleen and liver may also occur in Gaucher disease as well as bone pain, degeneration and fractures. The most common form of Gaucher disease (Type 1) affects 1 in 100,000 of the general population although it is estimated that not all those who have Gaucher disease will show symptoms. In the rarer Type 2 and Type 3 Gaucher disease, neurological problems will occur. This site contains over 200 pages of information about Gaucher disease and its treatment. Gaucher Disease Contents Page Some articles are also available in German and Italian. References to them are made in the English Contents page. The Gauchers Association was formed in 1991 to meet the needs of those suffering from Gaucher disease. Its members are mainly in the UK and Ireland. Gauchers Association is registered as a charity in the United Kingdom. Number 1095657.

2. Gaucher Disease 6th Conference held in Manchester on 30 November 2004, Prof Timothy Cox described what can be achieved with treatment for people with gauchers disease. http://www.gaucher.org.uk/contents.htm

GAUCHER DISEASE There are 200 different pages at this Web Site for the use of patients with Gaucher's Disease and their doctors. Most patients have Type 1 disease. But if you are looking for information on Type 2 or Type 3 we now have a special home page for Neuronopathic Gaucher Disease . However Type 3 patients should also read information on the main pages which is equally applicable to them. If you want to let us have your comments and suggestions send us a message Opinions expressed here are not necessarily those of the Gauchers Association All the pages on this site are also available in Spanish . Some pages have also been translated into German and Italian and this is shown in the contents below. We are also starting to translate the site into Russian . This site looks best if viewed with Internet Explorer 5 or 6 If you need an understandable but comprehensive introduction to the subject read Living with Gaucher Disease first. This is also available in Italian and Bulgarian as well as English Spanish and Russian If you can't find what you want, try using the

3. GAUCHERS DISEASE // Medical-Conditions.org // Medical Conditions gauchers disease information and medical glossary at MedicalConditions.org gauchers disease. An autosomal recessive disorder caused by deficiency of the enzyme Endometriosis. Epilepsy. Gallstones. gauchers disease. Genital Herpes. Genital Warts http://www.medical-conditions.org/?q=Gauchers Disease

4. Gaucher Disease; Treatment, Prevention, Cure Gene Therapy for gauchers disease A cure. may be in sight. Many patients with gauchers disease have had their. spleen removed - usually to alleviate the effects of its over http://www.healthlinkusa.com/content/369.html

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5. Gaucher's Disease Gaucher Disease. Gaucher Disease. gauchers disease. The Comprehensive Gaucher Disease Treatment Center. gauchers disease Chat http://www.bdid.com/gaucher.htm

HOME Gaucher's Disease (Glucosylceramidosis, Glucocerebrosidase Deficiency) The Gaucher's Disease Service at Addenbrooke's Gaucher disease Gaucher disease Gaucher disease PDF File ... GAUCHER DISEASE: CURRENT ISSUES IN DIAGNOSIS AND TREATMENT Type I (Non-Neuronopathic, Adult) Gaucher Disease Case #96-7 (Includes Microscopic Images) Short description of cell lines. Pathology: Gaucher disease type I Signs and symptoms of Type 1 Gaucher disease Gaucher Disease Type 1 Type II (Acute Neuronopathic, Infantile) Short description of cell lines. Pathology: Gaucher disease type II Gaucher Disease Type 2 Jared had Gaucher's Disease, Type II James had Gaucher's Disease, Type II ... Cameron had Gaucher's Disease, Type II Type III (Subacute Neuronopathic, Juvenile) Valerie has Gaucher's Disease, Type III Victoria has Gaucher's Disease, Type III Kristina has Gaucher's Disease, Type III Madeline has Gaucher's Disease, Type III ... HOME

6. Gaucher Disease — Links Other OnLine Sources. Gaucher Disease Treatment Program. The Massachusetts General Hospital (at Harvard Medical School) Gaucher Center. gauchers disease, UK gauchers disease, UK. The Gauchers Association was formed in 1991 to meet the needs of those suffering from gauchers disease. Its members are mainly http://www.gaucherdisease.com/links.html

Other On-Line Sources Gaucher Disease Treatment Program The Massachusetts General Hospital (at Harvard Medical School) Gaucher Center Gauchers Disease, UK The Gauchers Association was formed in 1991 to meet the needs of those suffering from Gauchers disease. Its members are mainly in the UK and Ireland. National Gaucher Foundation The mission of The National Gaucher Foundation is to fund research, meet ever-increasing patients' needs, provide education and awareness, develop patient groups and eradicate Gaucher Disease. NGF has active local chapters in Philadelphia and Chicago. Gaucher Disease Awareness and Prevention / Genetic Disorders / Gaucher Disease Doctors' Guide Guide to Complete Internet Medical Resources / Gaucher Disease Gaucher Disease Diagnosis and Treatment Program - Univ. of Pittsburgh The National Organization for Rare Disorders, Inc. Disease Information / Gaucher Disease National Institute of Neurological Disorders and Stroke National Institutes of Health, Bethesda, Maryland

7. Genzyme Australasia: Gaucher Disease Explained Simply Gaucher disease explained in simple terms. What is gauchers disease? How does Gaucher affect you? Gaucher Disease explained. What is Gaucher disease? http://www.genzyme.com.au/public/gd_explained.htm

What is Gaucher Disease? How does Gaucher affect you? ... available? Gaucher Disease explained What is Gaucher disease? Gaucher disease is an inherited disorder caused by a deficiency of an important enzyme in the body called glucocerebrosidase. Normally found inside a compartment of the cell (the lysosome), b -glucocerebrosidase breaks down a particular glycolipid (fatty substance) called glucocerebroside, sometimes known as glucosylceramide. In people with Gaucher disease, as a result of glucocerebrosidase deficiency, glucosylceramide collects in scavenger cells (macrophages) of the body. Cells containing this undigested lipid become swollen. These cells, called Gaucher cells, most commonly accumulate in the liver, spleen and bone marrow. It is the accumulation of Gaucher cells that causes the symptoms of the disease. Top of Page How does Gaucher disease affect you? There are 3 types of Gaucher disease - Types 1, 2 and 3. These were named in the order they were first described by doctors and can vary quite markedly in signs and symptoms. Type 1 Gaucher disease is by far the most common form of Gaucher disease. Patients with Type 1 Gaucher disease can display a wide variation of clinical signs - even brothers and sisters with Gaucher disease can be affected very differently. The table below shows some of the signs and symptoms of Type 1 Gaucher disease.

8. Gaucher's Disease Gaucher s disease,. Print this article, For a general description, see gauchers disease. Three clinical forms of Gaucher s disease are distinguished. http://www.amershamhealth.com/medcyclopaedia/Volume III 1/GAUCHERS DISEASE.asp

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Gaucher's disease, (Phillippe Charles Ernest Gaucher, 1854–1918, French physician), an autosomal recessive disorder of cerebroside metabolism characterized by accumulation of abnormal amounts of lipid in reticuloendothelial cells and accumulation of these Gaucher cells in various body tissues. For a general description, see Gauchers disease Three clinical forms of Gaucher's disease are distinguished. Type 1 is a chronic non-neuronopathic form, most frequent in Ashkenazic Jews. Type 2 is an acute neuronopathic disease, involving a fatal neurodegenerative disorder. Type 3 is a subacute neuronopathic (juvenile) form with neurologic and skeletal manifestations appearing in childhood or adolescence. On radiographs, infiltration of the bone marrow with Gaucher cells is characterized by increased radiolucency of bone and cortical scalloping and thinning. Geographic or motheaten patterns of bone destruction may be seen in focal osteolytic lesions. The spine may show osteopenia or osteolysis of the vertebral bodies, multiple compression fractures, kyphosis and spinal cord compression. Vertebra plana may occur owing to compression and fracture of vertebral bodies. In addition, trabecular destruction and thinning of both the outer and inner tables of the calvaria may be present. Other abnormalities include fractures of the ribs, tubular bones of the appendicular skeleton and femoral neck, with

9. Gaucher's Disease Gaucher s disease,. Print this article, (Phillippe Gaucher, 18541918, French physician and dermatologist), an autosomal recessive http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/GAUCHERS DISEASE

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Gaucher's disease, (Phillippe Gaucher, 18541918, French physician and dermatologist), an autosomal recessive condition involving congenital deficiency of the enzyme glucocerebroside with resultant excess of glucocerebroside in reticuloendothelial (Gaucher) cells which accumulates in the bone marrow, liver, spleen and lymph nodes. Three subtypes have been identified but 99% of cases represent type I, which has a wide range of severity. In type I, the age of onset varies from early childhood to late adulthood but most symptomatic patients present by adolescence. Those children who present before the age of 10 years generally have more severe and progressive disease. Typically, the child presents with easy bruising, lethargy, hepatosplenomegaly and bone pain. Radiological features of bone involvement are seen in the majority of children and may include the characteristic Erlenmeyer flask deformity The much rarer type II Gaucher disease presents in infancy with a rapidly progressive neurodegenerative course and death usually before 2 years of age. The rare type III Gaucher disease likewise presents predominantly with neurological involvement in childhood; death usually occurs by the age of 15 years.

10. Gaucher Disease - Genetics Home Reference Gaucher disease. What is Gaucher disease? Gaucher syndrome; gauchers disease; Glucocerebrosidase deficiency; Glucocerebrosidase Deficiency Disease; http://ghr.nlm.nih.gov/condition=gaucherdisease

A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Gaucher disease Related Gene(s) Quick links to this topic NIH Publications National Institutes of Health MedlinePlus Health Information Genes and Disease Genetic disorder summaries Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog Gaucher disease What is Gaucher disease? Gaucher disease is an inherited disorder in which the body cannot break down a lipid called glucocerebroside. Genetic factors cause the following types of Gaucher disease. Gaucher disease, type 1 Gaucher disease, type 2 Gaucher disease, type 3 pseudo-Gaucher disease Major signs and symptoms of Gaucher disease include an enlarged spleen and liver, low red blood cell counts (anemia), bruising due to a low number of blood platelets, and bone pain. How common is Gaucher disease? This disease is seen in 1 in 50,000 to 100,000 people in the general population. Type 1 Gaucher disease is more common in people of Ashkenazi (eastern and central European) Jewish heritage than those with other backgrounds. The disorder affects in 1 in 500 to 1,000 people of Ashkenazi Jewish heritage. Types 2 and 3 Gaucher disease and pseudo-Gaucher disease are not more common in people of Ashkenazi Jewish descent. What genes are related to Gaucher disease?

11. Gaucher Disease; Treatment, Prevention, Cure Many patients with gauchers disease have had their spleen removed usually to alleviate the effects of its over-activity but sometimes because it has been http://www.healthlinkusa.com/369a.asp

FREE. Would you like your site listed on HealthlinkUSA. Click here View health conditions and concerns alphabetically. A B C D ... Talk Health Wednesday June 2, 2004 Search information from 1,000's of today's best health sites Gaucher Disease Links to websites which may include treatment, cures, diagnosis, prevention, support groups, email lists, messageboards, personal stories, risk factors, statistics, research and more. Featured Sites Become a Featured Site? Living with Gaucher Disease Fact Sheet Many patients with Gauchers disease have had their spleen removed - usually to alleviate the effects of its over-activity but sometimes because it has been ruptured by injury Related Searches Products and Services Gaucher Disease Stomach Cancer Gaucher Pancreatitis ... H Pylori Search again. Find more information concerning: All Words Any Words Visit the HealthlinkUSA Talk Health Forum Click here to enter the forum Take part in discussions about Visit one of more than 40 featured health areas.

12. Gauchers Disease: XtraMSN Health gauchers disease Health24 Gaucher s disease is an inherited metabolic disorder in which harmful quantities of a fatty substance accumulate in the spleen, liver http://www.xtramsn.co.nz/health/0,,8065-1669859,00.html

Advanced Search Home Hotmail Search ... Help navBG = '#336699'; navOverBG = '#6699FF'; casText = '#FFFFFF'; casTextOver = '#FFCC00'; casBG = '#6699FF'; casOverBG = '#336699'; Ask The Expert Beauty Fitness Health Library Natural Health Relationships Parenting SEARCH WEB FOR: BROWSE XTRAMSN: -Select - Auto/Bike/Boat Broadband Budget 2004 Business Careers Entertainment Games Kids Money Motoring News Personals Rugby Shopping Sport Travel Weather Help SEARCH HEALTH RELATED ITEMS: Xtra Travel XtraMSN Sport Contact Us Health Headlines Kiwis Wising Up On Antibiotics Prenatal Amnio Tests Declining Stomach Surgery On The Increase Health Wake-Up Call To Airlines ... Talk About Sex You are here : XtraMSN Health Library A to Z Conditions Thu 03 June 2004 A to Z Conditions Gauchers Disease Description 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 three months of age. In addition, there is extensive and progressive brain damage. These patients usually die by two years of age.

13. Gaucher Disease Sponsored Links. gaucher disease. Here are some more sites that may be of interest What is gauchers disease? How does Gaucher affect you? How do you get it? http://health-megasite.com/articles/23/gaucher-disease.html

Click here to find out everything that you could ever want to know about gaucher disease , there is more information here than you ever dreamed of Sponsored Links gaucher disease Here are some more sites that may be of interest: Title: National Gaucher Foundation Home Page http://www.gaucherdisease.org/ Description: ... 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 ... Title: National Gaucher Foundation Home Page http://www.gaucherdisease.org/index.htm Gaucher Disease Patient Support Programs Resources Video/Audio Samples Support the NGF Please note ... of, and a cure for Gaucher Disease . The mission of the NGF ... Title: Gaucher Disease http://www.gaucher.org.uk/ Description: Gaucher disease : Information for patients, relatives, doctors and researchers from an independent charity.

14. InfoSeek Net Search Results: Gauchers Disease Gaucher Disease A Diagnosis, Evaluation and Treatment Summary http//neurowww2.mgh.harvard.edu/gaucher/gaucherdiag.html The Most Common Inherited http://icarus.med.utoronto.ca/week7/gauch.htm

Gaucher Disease: A Diagnosis, Evaluation and Treatment Summary http://neuro-www2.mgh.harvard.edu/gaucher/gaucherdiag.html The Most Common Inherited Lysosomal Storage Disease . Gaucher Disease, a rare, inherited, and potentially fatal disorder, is characterized by decreased levels of the enzyme glucocerebrosidase. . Living with Gaucher Disease http://neuro-www2.mgh.harvard.edu/gaucher/living.html :A guide for patients, parents, relatives, and friends. . Contents . Introduction . What is the history of Gaucher disease? . Gaucher disease: The most common lysosomal storage disorder. . Is there a Gaucher Disease Technology Assessment 16 http://text.nlm.nih.gov/nih/ta/www/16.html DRAFT DRAFT DRAFT * . GAUCHER DISEASE: CURRENT ISSUES IN DIAGNOSIS AND TREATMENT . National Institutes of Health Technology Assessment Conference Statement February 27-March 1, 1995 . This statement Gauchers Association http://www.wisebuy.co.uk/gaucher/ Contents Page . Contents Page on Compuserve and for North America . This is the same information but the pages are stored on Compuserve in the USA so access may be faster if you are located in North Cerezyme for Gaucher's Disease http://pharminfo.com/pubs/msb/cerezym.html

15. Gaucher's Disease value of ceredase, have asked us to make readers of this page aware of the availability of a Helpline for Clinicians based at the gauchers disease Clinic at http://www.bham.ac.uk/arif/gaucher.htm

Gaucher's Disease Ceredase/Cerezyme Table of Contents The Problem Submitted For ARIF To Advise Upon Reviews Identified Comments WARNING The following information is only a very brief summary of that available. It is primarily designed to give readers a starting point to consider research evidence in a particular area. Readers should not use the comments made in isolation and should have read the literature suggested. Readers should also be aware that more appropriate reviews may have become available since the request was dealt with. ARIF does not routinely update the advice on these pages. The Problem Submitted For ARIF To Advise Upon What is the evidence of effectiveness and cost effectiveness of Ceredase (Alglucerase) or Cerezyme (Imiglucerase) in the treatment of Gaucher's disease? Return to Table of Contents Reviews Identified Bryant J, Hallam L. Ceredase in the treatment of Type 1 Gaucher’s disease. Winchester: Wessex Institute of Public Health Medicine, Development and Evaluation Committee Report No 49, 1996. pp13. Return to Table of Contents Comments Response to this request was co-ordinated by the Department of Pharmacy Policy and Practice, University of Keele. The DEC report provides a useful summary of the relevant issues.

16. Worldbook Medical Encyclopedia > Gait - Gynecomastia > Gauchers Disease Worldbook Medical Encyclopedia Gait Gynecomastia gauchers disease gauchers disease. Documents 1 - 10 of 43 on the subject gauchers disease http://www.s-books.com/wbmedical/31380/31403/1.htm

Worldbook Medical Encyclopedia Gait - Gynecomastia Gauchers disease Gauchers disease Search the Web with All Surfable Books World Book Encyclopedia 2000 World Book Medical Encyclopedia Geography History Humanities Industry and Technology Life Science Physical Science and Math Recreation Social Science Documents 1 - 10 of 43 on the subject : Gauchers disease Public Educational Sources News and Magazines Encyclopedias Living with Gaucher Disease Living with Gaucher Disease Living with Gaucher Disease :A guide for patients, parents, relatives, and friends. Contents. ... What is the history of Gaucher disease ? ... http://neuro-chief-e.mgh.harvard.edu/gaucher/living.html Gaucher Disease History; what is Gauchers disease? In... Gauchers disease? In 1882,... onset... special processing compartment... disease is an inherited metabolic disease. Gaucher's... nervous system (CNS) complications in addition... After the woman's death, Gaucher examined... "Gaucher cells." The disease marked... Type I. CNS complications begin... called Gaucher's disease. In 1924,... patients with Gaucher's disease. A French physician,... Classification Gaucher's disease is an inherited... http://www.geocities.com/essy/gaucher.html

17. Worldbook Medical Encyclopedia > Gait - Gynecomastia > Gauchers Disease Worldbook Medical Encyclopedia Gait Gynecomastia gauchers disease gauchers disease. Documents 1 - 3 of 3 on the subject gauchers disease http://www.s-books.com/wbmedical/31380/31403/Educational_Sources1.htm

Worldbook Medical Encyclopedia Gait - Gynecomastia Gauchers disease Gauchers disease Search the Web with All Surfable Books World Book Encyclopedia 2000 World Book Medical Encyclopedia Geography History Humanities Industry and Technology Life Science Physical Science and Math Recreation Social Science Documents 1 - 3 of 3 on the subject : Gauchers disease Public Educational Sources News and Magazines Encyclopedias Living with Gaucher Disease Living with Gaucher Disease Living with Gaucher Disease :A guide for patients, parents, relatives, and friends. Contents. ... What is the history of Gaucher disease ? ... http://neuro-chief-e.mgh.harvard.edu/gaucher/living.html Lab. Diagnosis of and Genetic Counseling for Gaucher Disease severity of Gauchers disease by identification... Pennsylvania Gaucher disease (GD) is divided... age at onset (Table 1)... ] have greatly improved the quality... mutation will be inherited (carrier);... progression of neuro-logic complications. [ 2... enzyme assay. Neither disease type nor severity... Age at onset Variable; late... mutations will be inherited (unaffected, noncarrier).... patients lack neuronopathic complications. These results suggested... Type 2 disease diagnosed prenatally... central nervous system complications. This... http://neuro-www2.mgh.harvard.edu/gaucher/clinicalperspectives/April1996/labdiagnosis.html

18. Gauchers Sjukdom - Små Och Mindre Kända Handikappgrupper Enzyme Infusion Therapy of the Norrbottnian (Type 3) Gaucher Disease. Bailliere´s Clinical Haematology International Practice and Research, gauchers disease. http://www.sos.se/smkh/1996-29-015/1996-29-015.htm

Socialstyrelsen 106 30 Stockholm e-post Socialstyrelsen klassificerar sin utgivning i olika dokumenttyper Gauchers sjukdom Morbus Gaucher Innehåll: Sjukdom/skada/diagnos Förekomst Orsak till sjukdomen/skadan Ärftlighet ... Databasreferenser Dokumentdatum: 1999-09-01 HTML-version 2.1 Socialstyrelsen Detta är ett utdrag ur Socialstyrelsens kunskapsdatabas om små och mindre kända handikappgrupper. Med små och mindre kända handikappgrupper avses ovanliga sjukdomar/skador som leder till omfattande funktionshinder och som finns hos högst 100 personer per miljon invånare. Syftet med databasen är att ge aktuell information om små och mindre kända handikappgrupper och om det stöd och den service som dessa grupper behöver. För ytterligare information om aktuell diagnos hänvisas till informationsmaterial, litteratur och databaser som anges under resp diagnos. Sjukdom /skada/diagnos Förekomst Orsak till sjukdomen/skadan Ärftlighet Symtom Sjukdomen brukar delas in i tre kliniska huvudtyper: Typ 1 Typ 2 Typ 3 Diagnostik Behandling /åtgärder Enzymbehandling Typ 1 Typ 2 Typ 3 Ortopedkirurgi Praktiska tips Resurser på riks-/regionnivå Resurspersoner Kurser, erfarenhetsutbyte

19. BioSpace News: Gaucher's Disease Story from BioSpace.com) (4/26/04) BDS INTERNATIONAL Diagnostics GmbH To Establish Israeli Subsidiary To Develop Oral Enzyme Replacement For gauchers disease http://www.biospace.com/ccis/news_rxtarget.cfm?RXTargetID=88

20. Homepage - Babies With Type 2 Neuronopathic Gauchers Disease A site for parents of babies with Type 2 gauchers disease in Australia and New Zealand. Currently with Type 2 gauchers disease, there is no hope at all. http://members.optusnet.com.au/~martygee/gaucher/

This site is provided both as a memorial to infant sufferers of Type 2 neuronopathic Gauchers Disease, and as support to the parents who have had to live (and cope) with caring for a dying baby. In particular, it is aimed at affected families who live in Australia and New Zealand It is our wish that anyone, no matter where they might live, will find the material here helpful in understanding the plight of these children... particularly if they currently find themselves caring for, and loving deeply, a child that has been diagnosed with this terrible disease. The most difficult thing a parent can face, is being told that 'your baby is going to die' . As well as having to live with the inevitability of such a fact, there is also the nightmare of watching the suffering your baby goes through, and realising that there is nothing you can do about it. The rate of occurrence of such a disease in Australia is miniscule compared to diseases like cancer... but with cancer, there is always the hope of successful treatment and remission. Currently with Type 2 Gauchers Disease, there is no hope at all. The 'About' section gives a little background detail regarding the disease and what it does to a small child.

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