21. PharmGKB: Gaucher Disease Form; Gaucher Disease, Type 1; Gaucher Disease, Type 2; Gaucher Disease, Type 3; Gaucher s Disease; gauchers disease; Glucocerebrosidase Deficiency Disease http://www.pharmgkb.org/do/serve?objId=PA444258&objCls=Disease

22. Gaucher Children - Family Stories children. Madeline s Story Living with Children s gauchers disease by Tanya CollinHisted. What was gauchers disease I wanted to know? I http://www.childrensgaucher.org/research/familystories/madaline.htm

Visit Family Stories and find out more about these children Madeline's Story Living with Children's Gauchers Disease by Tanya Collin-Histed I don't know what the future holds in store for my daughter, who knows what tomorrow will bring? Madeline continues to cope with her illness and I continue to cope with life. In coping with life I have recognised that there is very little publicity, research and information about type 3 Gauchers Disease. I am currently working with Gregory Macres at the Children's Gaucher Research Fund, and other families and professionals around the world to raise the profile of the disease, improve communication between families and professionals, and encourage new research into the disease. It is a huge task and I know it will take time and a lot of energy, but together I believe that it can be achieved. I am just a parent who wants to be able to give my daughter a chance at life. I am no different to any other parent, I just have a bigger battle to fight. Tanya Collin-Histed Watford, England

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eagelnews.com 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

24. The Situation In Romania A representative from the importing distributor and Genzyme s new consultant in Romania also learned of the reality of living with gauchers disease. http://www.europeangaucheralliance.org/romaniaoct03.htm

The Situation in Romania Daniela is 13 years old and has Gaucher disease. She was carried into the Romanian Gaucher Patients Meeting held in Cluj-Napoca on 4-5 July. She could not walk because of a severe bone crisis. She also had a high temperature. She had started Cerezyme in October 2002 but the dose was reduced as money to pay for it ran out. When we met, her parents felt there was no hope of future therapy for their only child, writes Susan Lewis Daniela aged 13 years was among 15 sufferers of Gaucher disease who attended the two day Patients Meeting in Cluj-Napoca, capital of Transylvania in the northern part of Romania. On the first day of the meeting, all patients received a thorough examination by the eminent consultant paediatrician Prof Paula Grigorescu-Sido At a welcome dinner that evening, many of the patients and their families met for the first time. Bogdan, aged 11, looked four years old as he peered over the dining table. Sebastian , 17, also had severe growth retardation and looked no more than 11. Both children had a grey complexion and enlarged stomach although Bogdan has had a splenectomy.

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27. The Canadian Society For Mucopolysaccharide & Related Diseases Inc. Profile gauchers disease, Symptoms or effects with a line under them mean that there is information related to them in the database. http://www.mpssociety.ca/display_diseases.php?uid=24

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30. Lab. Diagnosis Of And Genetic Counseling For Gaucher Disease Table 1 Phenotypes of Gaucher Disease. Type 1. Type 2. Type 3. Prediction of severity of gauchers disease by identification of mutations at DNA level. Lancet. http://neuro-www2.mgh.harvard.edu/gaucher/clinicalperspectives/April1996/labdiag

Gaucher Clinical Perspectives - Vol 4, No 2 - April 1996 Laboratory Diagnosis of and Genetic Counseling for Gaucher Disease Erin O. Rice, MS, and John A. Barranger, MD, PhD Department of Human Genetics, University of Pennsylvania, Pittsburgh, Pennsylvania Gaucher disease (GD) is divided into three subtypes based on clinical signs and symptoms: Type 1 (nonneuronopathic), Type 2 (acute neuronopathic), and Type 3 (subacute neuronopathic). [ l ] All three types of GD are caused by a deficiency of gluco-cerebrosidase (GC) resulting in the accumulation of glucosylceramide within the cells of the reticuloendothelial system. The principal difference among the types is the presence and progression of neuro-logic complications. The symptoms of any type may begin in infancy; however, the designation of clinical subtype is made on the basis of clinical manifestations in the nervous system and is a more appropriate classification than one based on age at onset (Table 1) . The assignment of type, especially in children, should he made only after a careful examination of the presence and progression of related neurologic abnormalities because of the significant differences in prognosis.

31. Nutrition And Metabolism Disorders - 267 Of The Best Sites Selected By Humans Fabry Support and Information Group Fabrys Disease -Fabrys Disease Gauchers -Children with gauchers disease -Comprehensive Gaucher Treatment Center -European http://www.cbel.com/nutrition_and_metabolism_disorders/

Pages A-G 2 Columns Pages H-O Order by Alphabet Ordered by Theme Order by Popularity 3 Columns Pages P-Z 4 Columns Nutrition and Metabolism Disorders CBEL Health ( 267 links, last update: 12 April 2004 ) * = new links [Find on this page] A Pinch of Controversy Shakes Up Dietary Salt Action Guide for Healthy Eating Binge Eating Disorder ... Update on Nutraceuticals: dot Pharmacy Amyloidosis Amyloid Treatment and Research Center Amyloidosis Amyloidosis Amyloidosis ... Cerebrotendinous Xanthomatosis: CTX Fabrys Cardiac Transplantation for Fabrys Disease EMedicine: Fabry Disease Fabrazyme - A Treatment for Fabry Disease Fabry Community ... Fabrys Disease Gauchers Children with Gauchers Disease Comprehensive Gaucher Treatment Center European Gaucher Alliance Gaucher Disease ... What is Glycogen Storage Disease? Hyperlipidemia Familial Combined Hyperlipidemia - Overview Hyperlipidemia Hyperlipidemia Hyperlipidemia Hub ... Tumescent Liposuction Malnutrition Definition of Malnutrition Demographic and Health Surveys Malnutrition Malnutrition ... Starvation Niemann-Pick Ara Parseghian Medical Research Foundation International Center for Types A and B Niema...

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35. ALGLUCERASE Licensed Indications ‘For use as long term enzyme replacement therapy in patients with a confirmed diagnosis of Type 1 gauchers disease who exhibit severe http://www.keele.ac.uk/depts/mm/MTRAC/ProductInfo/summaries/A/ALGLUCERASEs.html

ALGLUCERASE SUMMARY SHEET TRADE NAME: Ceredase Licensed Indications: Moderate to severe anaemia after exclusion of other causes such as iron deficiency. Thrombocytopenia with bleeding tendency. Bone disease after exclusion of other causes such as vitamin D deficiency. Background Information Gauchers disease (GD) is an inherited (autosomal recessive) lipid storage abnormality in which the enzyme, glucocerebrosidase, is deficient. This results in the accumulation of the lipid, glucocerebroside, within macrophages which become very enlarged and known as Gauchers cells. These are typically found in the liver, spleen and bone marrow. The manifestation of disease symptoms is very variable ranging from very mild to extremely severe. The main characteristics seen are hepatosplenomegaly, bleeding disorders and bone disease. In addition to these key disease characteristics, other body systems, eg pulmonary, cardiac, renal and gastrointestinal can be affected. Fatigue is particularly common. GD has been classified as three types. Type 1 is the most prevalent form of the illness accounting for approximately 99% of cases. It develops in childhood/adulthood but often remains undiagnosed with symptoms mild or absent. Type 2 disease is characterised by severe neurological involvement in infancy. It usually results in death within the first 2 years of life. Type 3 disease

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37. GauchersAssociation gauchers disease Type 1, 2 and 3. gauchers disease is a rare genetic disease in which the body lacks a chemical or enzyme called glucocerebrosidase. http://www.eyeconditions.org.uk/GauchersAssociation.asp

SP ecific E ye C ondition S www.eyeconditions.org.uk Gauchers Association Tanya Collin-Histed, Neuronopathic Family Representative 25 West Cottages London NW6 1RJ Tel: 0207 433 1121 Fax: 0207 431 5883 Opening hours: 10 a.m. to 5.30 p.m. Monday to Friday (24 hour ansaphone) E-Mail: Tanya@collin-histed.freeserve.co.uk Website: http://www.gaucher.org.uk Definition of conditions covered: Gauchers Disease Type 1, 2 and 3. Gauchers Disease is a rare genetic disease in which the body lacks a chemical or enzyme called glucocerebrosidase. This enzyme normally breaks down a fatty waste product called glucocerebroside. Without the enzyme, glucocerebroside accumulates in the body, mostly in the liver, spleen, and to a lesser extent in the bones, lungs and other organs. In some people, glucocerebroside accumulates in the nervous system in addition to the other areas. Such patients are said to have Neuronopathic Gauchers Disease (NGD). Type 1 GD is referred to as non-neuronopathic, while type 2 and 3 are referred to as neuronopathic forms. Sufferers of Neuronopathic Gauchers Disease have an eye movement problem called 'oculomotor apraxia' or 'saccade initiation failure'. There are several practical problems that may arise as a result of these abnormal eye movements. e.g. the sufferer is unable to look from side to side quickly, therefore they are particularly vulnerable in a crowd, crossing the road etc. In children this eye abnormal eye movement will have significant educational issues

38. Mature Megakaryocytes, Gauchers' Disease Marrow, PAS Stain Bloodline. Today's Discussion. Create New Topic. List by Topic. Mature megakaryocytes, gauchers' disease marrow, PAS stain. Two PAS positive mature megakaryocytes. gauchers' disease marrow. PAS stain http://image.bloodline.net/stories/storyReader$322

Bloodline Home About Educational Features Image Atlas Case Studies Private Lectures Conference Reviews ... Glossary Resources Conference Calendar Hematology Links Full Text Journals Classifieds Specialties BMT/Stem Cell Cord Blood Thrombosis Hemostasis ... Veterinary News Hematology News Blood News Update Discussion Today's Discussion Create New Topic List by Topic Mature megakaryocytes, Gauchers' disease marrow, PAS stain Two PAS positive mature megakaryocytes. Gauchers' disease marrow. PAS stain - 100X Image ID: 2661-091 Carden Jennings Publishing Co., Ltd.

39. Gaucher Disease - Information And Support Resources , Fanconi Anemia. ?, Gaucher disease. ?, Machado Joseph disease. ?, NeimanPick. Interactive ?. ?, Jewish Genetic diseases Boards. Gaucher s disease. http://www.mazornet.com/genetics/gauchers.asp

Jewish Genetic Diseases A Mazornet Guide VISIT MazorNet's other Jewish Guides The MazorNet-Jewish Celebrations Kosher Restaurant Guide The MazorNet- Jewish Celebrations Vendor Directory ( ... Photographers, Kosher Caterers, Bridal Gowns, and Much More) Important Information Home Page Genetic Counseling and Screening Genetic Screening Laboratories - A Directory A Brief Key to Basic Genetic ... s Select Disorder Bloom's Syndrome Breast and Ovarian Cancers Breast Cancers - Prevention and Resources Canavan Disease ... Ulcerative Colitis Recommended Reeading Genetic Diversity Among Jews - Diseases and Markers at the DNA Level Provides an authoritative, up-to-date account of the impact of molecular genetics on our understanding of genetic diseases prevalent among Jews. Jewish Genetic Disorders : A Layman's Guide Guide to genetic disorders that tend to affect the Jewish population more than the non-Jewish, including a short history of the Jews and basic facts concerning genetics and genetic disorders. Interactive Jewish Genetic Diseases Boards Gaucher's Disease Symptoms Incidence among People of Jewish Descent Treatment Resources and More Incidence and Carriers Gaucher's Disease is an inherited disease. An enzyme deficiency disorder. Gaucher Disease, also called cerebroside lipidosis and familial splenic anemia, is an autosomal-recessive condition named after French physician Philippe Gaucher. Gaucher Disease occurs at any age, but it is most dangerous and most severe in infants. In essence, Gaucher Disease results from the deposition of glucocerebroside in the liver, bone marrow, and spleen. The enzyme glucocerebrosidase normally breaks down glucocerebroside, but patients with Gaucher Disease do not manufacture enough of the enzyme, and deposition of glucocerebroside results.

40. Gaucher Disease Gaucher disease. other NiemannPick diseases. Gaucher disease. gauchers Association. A UK based charity for Gaucher disease. Their http://omni.ac.uk/browse/mesh/C0017205L0017205.html

low graphics Gaucher Disease Gaucher Disease Gaucher Disease / genetics other: Niemann-Pick Diseases Gaucher Disease Gauchers Association A UK based charity for Gaucher disease. Their Web site provides comprehensive information about Gaucher disease (which is an inherited, enzyme deficiency disorder), aimed at patients and doctors. Information includes news items, information on bone disease, children and Gaucher disease, enzyme replacement therapy, gene therapy, fund raising, home infusions, new treatments, screening and nutritional analysis, tests, Type 2, and Type 3 Gaucher disease, and conference reports. The site is also available in Italian, German, and Spanish. Patient Education Handout [Publication Type] Gaucher Disease Neuronopathic Gaucher disease This leaflet, aimed at parents, provides information about Neuronopathic Gaucher disease (NGD), an inherited, enzyme deficiency, disorder. The prevalence, effects, symptoms and treatment are explained here for NGD types 2 and 3. Published on the Web by Great Ormond Street Children's Hospital (GOSH) and the Institute of Child Health (ICH). Also available in PDF requiring Adobe Acrobat Reader. Patient Education Handout [Publication Type] Gaucher Disease Neuronopathic Gaucher disease : special educational needs This leaflet, aimed at parents, provides information about the educational requirements of children with Neuronopathic Gaucher disease (NGD). It explains how NGD can affect learning and education, special provision at school, and what parents can do. A case study and list of useful addresses is also provided. Published on the Web by Great Ormond Street Children's Hospital (GOSH) and the Institute of Child Health (ICH). Also available in PDF requiring Adobe Acrobat Reader.

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