21. Blackwell Synergy - Cookie Absent Our patient was diagnosed with type1 gauchers disease by liver biopsy and clinical presentation. The diagnosis of Gaucher disease has been commonly made by http://www.blackwell-synergy.com/doi/abs/10.1111/j.1399-3046.2005.00251.x

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22. Disorders Of Energy Metabolism Endocrinology Metabolism gauchers disease. Gaucher Cells. Radiology Long bone XRay. Localized thinning of bony cortex; Femoral head Erosion and http://www.fpnotebook.com/END92.htm

Home About Links Index ... Editor's Choice document.write(code); Advertisement Endocrinology Metabolism Assorted Pages Inborn Errors of Metabolism Disorders of Energy Metabolism Lysosomal storage disease Inborn Error of Small Molecule Metabolism ... Tay-Sachs Disease Disorders of Energy Metabolism Glycogen Storage Disease Book Home Page Cardiovascular Medicine Dentistry Dermatology Emergency Medicine Endocrinology Gastroenterology Geriatric Medicine Gynecology Hematology and Oncology HIV Infectious Disease Jokes Laboratory Neonatology Nephrology Neurology Obstetrics Ophthalmology Orthopedics Otolaryngology Pediatrics Pharmacology Practice Management Prevention Psychiatry Pulmonology Radiology Rheumatology Sports Medicine Surgery Urology Chapter Endocrinology Index Adrenal Disease Dermatology Diabetes Mellitus Examination Ophthalmology Geriatric Medicine Growth Hematology and Oncology Hypoglycemia Laboratory General Metabolism Neurology Neonatology Obesity Obstetrics Parathyroid Disease Pediatrics Pharmacology Pituitary Disease Prevention Radiology Nephrology Sex Sports Medicine Surgery Symptom Evaluation Thyroid Disease Page Metabolism Index Background Class Energy Class Lysosomal Storage Class Small Molecules Fructose Intolerance Galactosemia Gauchers Disease Homocystinuria Tay-Sachs See Also Inborn Errors of Metabolism Types Oxidation defects Disorders of fatty acid mobilization and metabolism Glycogen storage diseases Type 3: Forbes Disease Type 6: Hers Disease Search other websites for this topic Search National Library of Medicine PubMed for related articles Search Google for related

23. European Patients Support Groups Gaucher Disease Information on the European Gaucher Alliance. The number of men, women and children suffering from gauchers disease in Europe is very http://www.europeangaucheralliance.org/egaintro2002.htm

European Patients Support Groups The number of men, women and children suffering from Gauchers disease in Europe is very small compared to the hundreds of millions of people who populate the continent. Yet with the communication network of the 21st century, families afflicted with Gauchers disease can reach each other both within their own countries and world-wide with relative ease. Patient support groups in many European countries have been established due to a number of factors, not least the availability of an effective treatment and the hard work and dedication shown by many doctors and scientists. The sufferers and their families themselves have played a major part in building up a network of support. The European Gaucher Alliance is an umbrella organisation linking patient support groups. The first patient support group in Europe was formed in the north of Sweden in 1975 by parents of children with Type 3 Gauchers disease. The aim of the Norrbotten based Morbus Gaucher-foreningen was to promote and look after patients' interests regarding treatment, care, rehabilitation and social security. The group represented patients when contacting different authorities and gave out relevant information about the disease. Today they have about 120 members.

24. The American Journal Of Dermatopathology - UserLogin The Gaucher cell in gauchers disease is a distended reticuloendothelial cell with Fisher ER, Reidbord H. Gaucher s disease pathogenetic considerations http://www.amjdermatopathology.com/pt/re/ajderm/fulltext.00000372-199902000-0001

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25. Niemann-Pick Disease Group (UK) OGT918 and gauchers disease. A trial of OGT918 for Gaucher patients with the neuronopathic form of the disease is in the preliminary stages of discussion http://64.77.54.174/npdg-uk/vol8-1/research.htm

Research Updates OGT 918: Clinical Trials - OGT-918 and NPC OGT 918 and Gauchers Disease New Discoveries: NPC1 Protein Structure NPC2 Gene UK News: Lottery Project - Gene Replacement Therapy - NPC UK Research Boost SSIEM International Conference USA News: NPC Research News - It's a Pump A Light in the Darkness APMRF Funds 18 Research Grants Message from Dr Pentchev Clinical Trials - OGT 918 and NPC Oxford GlycoSciences are keen to keep us informed of progress and will be issuing a regular bimonthly newsletter, which will give updates on clinical studies and developments within OGS. The first issue will be produced in the New Year and go to all the patient groups including Niemann-Pick, Gauchers, Fabry etc. and be posted on the OGS lnternet site www.ogs.com. This will provide a consistent supply of information to the patient groups and is a really positive development that will be of benefit to both OGS and the patient communities. OGT918 and Gauchers Disease A trial of OGT918 for Gaucher patients with the neuronopathic form of the disease is in the preliminary stages of discussion between Dr Roscoe Brady and Dr Raphael Schiffmann of the National Institutes of Health in Bethesda, USA and Oxford GlycoSciences. The proposed trial would take place at the NIH. NPC1 Protein Structure NPC1 is proving to be a protein whose function has hidden depths and whose history dates back to the dawn of life on earth. Recent scientific papers published indicate significant similarity to proteins found in bacteria and from analysis of the protein structure and orientation within cellular membranes, it is possible for scientists to make an informed estimate of the role of NPC1 in cell operation. Considerable scientific interest has been generated in the NPC1 aspect of cell operation. This can only be good for the families affected in that greater understanding will assist in the formulation of potential treatments. In addition, more scientists will be drawn to this area of research and this in turn could accelerate progress towards an effective treatment for NPC.

26. Niemann-Pick Disease Group (UK) of treatment for patients with Type 111 and even Type 11 gauchers disease. Should the trial prove effective in gauchers disease, then it could be used http://64.77.54.174/npdg-uk/vol7-1/research.htm

Research Updates Type C News OGT-918 Update Lottery Grant NNPDF Research Update ... Conference Research News on Niemann-Pick Disease - Type C Family Screening for NP-C The recent advances in mutation analysis of NP-C patients has revealed over 100 different mutations and it is likely that more will be identified as new families are diagnosed. What does this mean to us and how will it affect our plans to assist families? It is a complex topic from all viewpoints, the main ones being: the scientific explanation, the relationships between family members and the potential legal implications. Science First of all, what is a mutation? The answer is not simple and I'm not sure if the scientific world has an agreed definition. Basically it is a change in the expected sequence of a DNA molecule in the cell. An outline explanation is made below: Each of the 100,000 or so genes that define our life, in terms of development, personality and death, specify the production of a specific protein. These proteins are responsible for the operation of the many 'chemical factories' that exist within each of the billions of cells of our bodies. Many proteins are enzymes which catalyse (speed up) the chemical reactions, needed to break down and to build the many complex molecules which keep us alive. Some of the proteins are required to transport these molecules to the places where they are needed in the cell. NPC1 is a transport protein. All proteins are constructed from amino acids, connected together, like a string of pearls, which is then folded in a particular way, to enable the protein to function correctly. Each of the amino acids is specified by a coded DNA sequence. The gene is a combination of many of these sequences and also includes many other DNA sequences which appear to be inactive (sometimes known as 'junk' DNA).

27. Tidsskriftet - Artikkel Evidence of an enzymatic deficiency in gauchers disease. The diagnosis of gauchers disease. I The hematologic impact of Gaucher`s disease proceedings http://www.tidsskriftet.no/pls/lts/pa_lt.visSeksjon?vp_SEKS_ID=662102

28. NeLH - Screening National Screening Committee gauchers disease screening The National Screening Committee s policy on newborn screening for gauchers disease http://libraries.nelh.nhs.uk/screening/searchResponse.asp?categoryID=10477

29. Gaucher's Disease Information Page: National Institute Of Neurological Disorders Gaucher s disease information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). http://www.ninds.nih.gov/disorders/gauchers/gauchers.htm

Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system More about Gaucher's Disease Studies with patients Research literature Press releases Search NINDS... (help) Contact Us My Privacy NINDS is part of the National Institutes of Health You are here: Home Disorders Gaucher's Disease NINDS Gaucher's Disease Information Page Get Web page suited for printing Email this to a friend or colleague 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 sometimes in the brain. There are three types of Gaucher disease. 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 and low blood platelets. They also have an enlarged liver and spleen, skeletal disorders, and, in some instances, lung and kidney impairment. There are no signs of brain involvement. Symptoms can appear at any age. In

30. Gaucher Disease gauchers Association. A UK based charity for Gaucher disease. Their Web site provides comprehensive information about Gaucher disease (which is an inherited http://omni.ac.uk/browse/mesh/D005776.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.

31. 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. 2661-090.jpg http://image.bloodline.net/stories/storyReader$321

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 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.

32. Mature Megakaryocytes, Gauchers' Disease Marrow, PAS Stain gauchers disease marrow, PAS stain. Two PAS positive mature megakaryocytes. gauchers disease marrow. PAS stain 100X. 2661-091.jpg 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.

33. Gaucher, Gauchère, Un Site Internet Pour Les Gauchers ! disease disease gaucher genetic disease gaucher disease gaucher treatment disorder deficiency research http://www.lesgauchers.com/

Aujourd'hui Vendredi 9 Septembre 2005, bienvenue sur le site web des gauchers de France. VOUS AVEZ ÉCRIT / NOUS AVONS REPONDU Tous les mois nous publierons sous ce titre... "La conception" qui confirme la règle Utilisation par les gauchers d’objets adaptés Et si on se disait tout Plutôt que de : " Ne rien dire. Ne rien voir. Ne rien entendre " L'écriture et les gauchers NON ! NON ! ET NON ! Les gauchers n’écrivent pas plus mal que les droitiers. Bon anniversaire !! En septembre 2004 après des années de gestations naissait « lesgauchers.com » 8 000 000 de gauchers en France ! Y a-t-il un gaucher dans la classe ? Avez vous lu l'EXPRESS ? L’Express consacre deux pages aux gauchers ! Magasin et boutique pour gaucher " LA BOUTIQUE " MODE D'EMPLOI La boutique en ligne... MÉTÉO Toutes les prévisions Petites annonces / Progammes TV Emploi : les annonces Votre soirée TV UN SITE POUR LES GAUCHERS ? Par Alain Denirobert Pourquoi ce site? Nous sommes en France les derniers de la classe ! Et pas seulement dans la communication ! Mais aussi dans la production et la distribution, des nombreux objets spéciaux qui sont pourtant mis à la disposition des gauchers à l’étranger. Internet est un formidable outil de communication , sur lequel les gauchers peuvent s’appuyer pour s’exprimer, et tenter de remédier à l’ignorance dont on taxe les droitiers à l’égard des gauchers, (ignorance qui laisse la possibilité à une minorité de droitiers de dicter leurs vérités sur les gauchers).

34. Gaucher Disease - Information And Support Resources Gaucher disease Overview, Screening and Testing Information, Support Resources. 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.

35. AR Article Html Temp Gaucher s disease of the Spleen There are three subtypes of Gaucher s disease, varying widely in severity. Ninetynine percent of individuals have http://www.ctisus.org/rsna_2004/spleen/gauchers.html

Splenic Pathology : Gaucher's disease of the Spleen Gaucher's disease results from a lack of glucerebrosidase producing accumulation of ceramide in cells of the reticular endothelial system (RES), particularly involving the bone marrow, liver, spleen and lymph nodes. There are three subtypes of Gaucher's disease, varying widely in severity. Ninety-nine percent of individuals have subtype I. Clinical symptoms appear from early childhood to late adulthood. The majority of symptomatic patients will present during adolescence. Those displaying symptoms before the age of 10 y/o tend to have a more severe and progressive form of the disease. The accumulation of Gaucher cells leads to clinical symptoms of anemia, bone pain, and hepatic dysfunction and develop easy bruising, lethargy, and hepatosplenomegaly. Hepatosplenomegaly is readily visualized on CT and results from diffuse infiltration of these organs with ceramide. The ceramide deposition can also produce focal low density masses on contrast enhanced CT due to accumulation of gaucher cells. Masses can also appear as a result of focal infarction from relative regions of ischemia in areas of infiltration. These masses simulate a variety of benign and malignant tumors of the spleen. Ancillary radiographic findings that may favor Gaucher's disease as the etiology of the masses over other tumors include Erlenmeyer flask deformity of the femurs, aseptic necrosis of the femoral heads, generalized osteopenia, or multiple diffuse lytic lesions of osseous structures.

36. Canadian Directory Of Genetic Support Groups Gaucher s disease National Gaucher Foundation of Canada Canadian Society for Mucopolysaccharide Related disease Inc. Canadian Association for TaySachs 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 Canadian Association for Tay-Sachs and Allied Diseases Children Living with Inherited Metabolic Diseases (CLIMB) Page revised: September 8, 2005 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

37. Gauchers Sjukdom - Små Och Mindre Kända Handikappgrupper Beutler E. Gaucher disease as a paradigm of current issues regarding single gene Enzyme Infusion Therapy of the Norrbottnian (Type 3) Gaucher disease. http://www.sos.se/smkh/1996-29-015/1996-29-015.htm

Socialstyrelsen 106 30 Stockholm Socialstyrelsen klassificerar sin utgivning i olika dokumenttyper Gauchers sjukdom Morbus Gaucher Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Diagnostik ... Dokumentinformation Dokumentdatum: 2004-09-13 HTML-version: 3.0 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 glukosylceramidas Orsak till sjukdomen/skadan Symtom Typ 1 Typ 2 Typ 3 Diagnostik Enzymbehandling Vid typ 1 Substratreduktion Kirurgisk behandling, Vissa Praktiska tips Resurspersoner anders.erikson.us@vll.se"

38. Gauchers opisthotonus, and enlargement of the spleen and liver. Gaucher s disease factsheet National Institute for Neurological Disorders and Stroke http://www.ion.ucl.ac.uk/library/patient/gaucher.htm

Gaucher's disease Patient Support Information Medline NLM definition : Hereditary disorder of glucocerebroside metabolism, usually occurring in infancy, and characterized by mental retardation, bulbar palsy, opisthotonus, and enlargement of the spleen and liver. Gaucher's Disease factsheet: National Institute for Neurological Disorders and Stroke Support Groups Climb The Quadrangle, Crewe Hall, Weston Road, Crewe, Cheshire CW1 6UR Tel: 01270 250221 (information, advice and support to parents and professionals involved with metabolic diseases). The office is open 9.00am - 5.00pm Mondays to Fridays. Fax: 01270 250244 A national umbrella organisation working on behalf of children, young people and families affected by metabolic disease. Offers a telephone helpline for information, counselling and support; written information by post (detailed information only available following confirmed diagnosis, appropriate professional counselling and telephone contact); details of other agencies and sources of help; information about the latest research and whom to contact for specialist advice etc.

39. Progressive Supranuclear Palsy Another degenerative disease, Gaucher s typeIII, a metabolic storage disese, Gaucher s disease. gauchers has more dementia than PSP, usually starts http://www.tchain.com/otoneurology/disorders/central/movement/psp.htm

Progressive Supranuclear Palsy Timothy C. Hain, MD Chicago IL, USA. Version: 7/2002 Please read our Progressive supranuclear palsy (PSP) is a degenerative neurological disorder of uncertain etiology characterized by gait ataxia, slowing or inability to generate voluntary saccadic eye movements, and axial rigidity. The most characteristic aspect of PSP is an inability to move the eyes, but the first symptom of PSP is usually unsteadiness and falling. PSP was first described as a distinct disorder in 1964. It is sometimes referred to as Steele-Richardson-Olszewksi syndrome, reflecting the names of the individuals who defined the disorder. Who Gets PSP? PSP is estimated to affect about 4-6.4/100,000 persons, or about 5-6 percent of persons thought to have Parkinsonism. The incidence rate for new cases for ages 50-99 is 5.3/100,000, the crude incidence rate is 1.1/100K (Bower et al, 1997; Schrag et al, 1999). The peak incidence is in the early sixties. Men are affected slightly more often than women. PSP does not generally run in families, although there are some pedigrees reported. An illness resembling PSP is very common in Guam, sometimes in association with ALS (amyotrophic lateral sclerosis) and dementia. The cause of Guamanian PSP is unclear although it has been attributed to unusual dietary factors, possibly interaction with genetic factors (Cox and Sacks, 2002). Recently a high prevalence of PSP like illness has been found on the island of Guadeloupe in the French West Indies (Caparros-Lefebre, 1999). In this population, it is suspected that a PSP like illness is related to ingestion of native teas called "soursop" and "sweetsop", both of which are forms of the "custard apple".

40. Entrez PubMed BACKGROUND To know the incidence and distribution of gauchers s disease (GD) in Spain, a national i http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9

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