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Gauchers Disease: more books (38)

Gaucher Disease
The Official Parent's Sourcebook on Gaucher's Disease: A Revised and Updated Directory for the Internet Age by Icon Health Publications, 2002-09
Gaucher Disease - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by ICON Health Publications, 2004-09-28
Type 3 Gaucher Disease - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-17
Gaucher Disease: A Century of Delineation and Research (Progress in Clinical & Biological Research)
Type 2 Gaucher Disease - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-17
Federal and private roles in the development and provision of alglucerase therapy for Gaucher disease (Background paper)
Gaucher Disease - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-17
Type 1 Gaucher Disease - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-16
Gaucher Disease by Claus Niederau,
Lysosomal storage disease: Inborn Error of Metabolism, Lysosome, Organelle, Cell (biology), Tay-Sachs Disease, Gaucher's Disease, Cell Biology, Intracellular, ... Glycogen Storage Disease Type II, Enzyme.
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 - 1996 publication. by unkn, 1996
Biochemical and Morphological Studies of the Glycosphingolipidoses: Gaucher's Disease, Farby's Disease and Sandhoff's Disease by Susan Jane Desnick, 1972-01-01
Psychosocial Aspects of Heart Failure / Gaucher Disease / Emergency: Digital Photographs in the ED (American Journal of Nursing, Volume 103, Number 12, December 2003)

lists with details

HealthCyberMap: Nutritional And Metabolic Diseases And Immunity Disorders
Resource Title Gaucher disease Glucocerebrosidase Deficiency. Incl. Gaucher disease Type 1; Type 2 (Acute); Type 3 (Subacute/Chronic); PerinatalLethal
http://healthcybermap.semanticweb.org/bodyviewer/nutritional.asp?Page=2
Gaucher Disease - Gastonia, North Carolina
Gaucher disease Gastonia, North Carolina - courtesy of CaroMont Health.
http://www.caromont.org/11784.cfm

Extractions: ï¿½Diseases, Conditions and Injuries Pronounced: go-shay disease by Michelle Badash, MS Definition Causes Risk Factors ... Organizations Gaucher disease is a rare, inherited disease that causes the abnormal storage of fatty substances. There are three types of Gaucher disease: Type I - the most common type. It is found widely in people of Ashkenazi Jewish descent. Type II - very rare, but rapidly progressive form of Gaucher disease. Type III - very rare form. Most cases have been found in Sweden, Scandinavia, and Japan. Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase. Instead of degrading naturally, glucocerebroside builds up in the spleen, liver, lungs, and bone marrow. In rare cases, it may also accumulate in the brain. A risk factor is something that increases your chances of getting a disease or condition. The primary risk factor for Gaucher disease is having family members with the disease. The three types of Gaucher disease vary in the onset and severity of symptoms. In general, the later the onset of symptoms, the less likely that symptoms will be severe.
Www.jewish.com
Gaucher disease Webpage and Resources http//www.gaucherdisease.org/. This site provides important information about Gaucher disease with weblinks and
http://www.jewish.com/page.php?do=page&cat_id=229
Treatment Of Lysosomal Storage Disorders -- Mehta Et Al. 327 (7413): 462 -- BMJ
An oral treatment for Gaucher s disease (Zavesca, Miglustat, Actelion, A novel treatment of Gaucher s disease with nbutyldeoxynojirimycin (OGT 918) to
http://bmj.bmjjournals.com/cgi/content/full/327/7413/462

Extractions: This article Extract PDF Respond to this article Read responses to this article ... Alert me when a correction is posted Services Email this article to a friend Find similar articles in BMJ Find similar articles in ISI Web of Science Find similar articles in PubMed ... Download to citation manager Search for citing articles in: ISI Web of Science (2) PubMed PubMed Citation Articles by Mehta, A. B Articles by Laverey, C. Related content Other nutrition and metabolism Increased awareness and diagnosis are important as treatment is now feasible The lysosomal storage disorders have hitherto justifiably been consigned to the small print sections of textbooks of biochemistry and internal medicine and optional modules of the undergraduate morbidity and premature mortality of these disorders may be preventable.
Gaucher's Disease - Ceredase/Cerezyme
Enzyme therapy in type 1 Gaucher disease comparative efficacy of mannoseterminated glucocerebrosidase from natural and recombinant sources.
http://www.arif.bham.ac.uk/requests/g/gaucher.htm

Extractions: WARNING The information is only a very brief summary of that available at the time. It was 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 read the literature suggested. Readers should also be aware that more appropriate evidence may have become available since the request was undertaken.
Healthfinder® Gaucher's Disease
A general overview of Gaucher s disease that includes a description of the disorder, and treatment, prognosis and research information.
http://www.healthfinder.gov/Scripts/ShowDocDetail.asp?doc=778&lang=1
Alglucerase (Ceredase And Cerezyme) For Gaucher Disease, 317
We cover alglucerase therapy for Type 1 Gaucher disease1 Cardiopulmonary Gaucher disease, including pulmonary hypertension; Thrombocytopenia platelets
http://www.bcbsma.com/common/en_US/hresource/317.jsp
Neuronopathic Gaucher Disease - Special Educational Needs
Great Ormond Street Hospital for children NHS Trust, patient and family information, factsheets.
http://www.ich.ucl.ac.uk/factsheets/families/F040901/page5.html

Extractions: The role of portage The career options open to your child may be limited. Vocations involving fast-moving objects (such as children or animals) or crowded and noisy environments may present challenges. It may be wise to consider these issues at an early stage to avoid frustration later. This should be considered when choosing the final exam subjects. Having a keyboard on the computer screen to reduce eye movements or maybe learning to touch type. The use of a ruler with the middle bit cut out, placed over the words in a book this can help your child to read and follow the text especially when completing a line and going onto the next one. Enlarging work sheets and using highlighter pens to indicate key points.
Understanding Gaucher Bones
Everyone s bones, whether they have Gaucher disease or not, However in women with Gaucher disease, their bones may suffer additional loss.
http://www.gauchersoutheast.com/bones.html

Extractions: Understanding Gaucher Bones Dr Henry Mankin spoke about the bone complications of Gaucher Disease at two talks recently: one at the Royal Free Hospital, London on 9 November 1999 and the other at the US Gaucher Conference in Arlington, Virginia on 3 October 1999. Dr Mankin is Chief of the Gaucher Disease and Bone Cancer Program at Massachusetts General Hospital in Boston, USA and has served as Chief of Orthopedic Surgery and Professor of Orthopedics in Harvard Medical School. This is a summary of both talks by Susan Lewis 'Bone is a living tissue,' explained Dr Mankin. 'It reflects everything that goes on in your body and everything in your body contributes to your bones. Bone is not a permanent fixture. It is alive, made up of crystals and normally recycles regularly.' Dr Mankin said that there are several different types of cells in your bones: osteoblasts which build bone, osteocytes which care for the bone and osteoclasts which destroy the bone. Another set of cells in the bones are guest cells: bone marrow cells which make blood including the red and white cells. Gaucher cells accumulate in the bone marrow and grow bigger and bigger. 'The bone marrow fills up with them. The Gaucher cells throw out the healthy guest cells and there is less bone marrow. The balance between osteoblasts and osteoclasts are closely tied. If less bone is made, then less bone is destroyed; and if less bone is destroyed, then less bone is made. I believe that in patients with Gaucher Disease the osteoclasts are in very small number as compared with other people and this stops the osteoblasts building up more bone. These Gaucher cells live forever.'
NORD - National Organization For Rare Disorders, Inc.
Gaucher disease is a rare, inherited metabolic disorder in which The symptoms and physical findings associated with Gaucher disease vary greatly from
http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Gaucher Disea
Gaucher Disease Topic - Unified Search Environment
Gaucher disease Topic Tree Gaucher disease MSH/MH/D005776 DXP/DI/U000704 MSH/EN/D005776 Gaucher disease Histiocytosis MastCell Sarcoma.
http://www.use.hcn.com.au/portals/shared/subject.`Gaucher Disease`/home.html

Extractions: An autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase (see GLUCOSYLCERAMIDASE) featuring the pathological storage of glycosylceramide in mononuclear PHAGOCYTES (Gaucher Cells). The most common subtype is the non-neuronopathic form, a slowly progressive condition characterized by hepatosplenomegaly and skeletal deformities. The neuronopathic forms are divided into infantile and juvenile forms. The infantile form presents at 4-5 months of age with anemia, loss of cognitive gains, neck retraction, dysphagia, and hepatosplenomegaly. The juvenile form features a slowly progressive loss of intellect, hepatosplenomegaly, ATAXIA, myoclonic SEIZURES, and spasticity. The neuronopathic forms are characterized by neuronal loss with neuronophagia, and accumulation of glucocerebroside in neurons. (From Baillieres Clin Haematol 1997 Dec;10(4):711-23; Menkes, Textbook of Child Neurology, 5th ed, p97) Synonyms and Source Vocabularies:
Pathoindia Case 31
It looks like Gaucher s disease. The best hint is in the 100X Unfortunately, Gaucher cells are common in any disease with a high cell turnover (eg, AML,
http://www.pathoindia.com/case31.html

Extractions: CASE 31 HISTORY: Male child, age 8 years-old, presented with failure to thrive. He was found to have pancytopenia and hepatosplenomegaly. Bone marrow aspiration done elsewhere was reported to be nonspecific hyperplasia. Splenectomy was done. Images of gross and microscopy findings are presented. Image A: Gross photo of a slice of spleen. Bangalore, India Diagnosis: GAUCHER'S DISEASE. This time we have received an overwhelming global response - a total of 27 responses of which 20 have straight away called it Gauchers. Two persons has entertained the possibility of SHML / Leishmania in addition. Three persons have considered leishmania vs histiocytosis, one - Neiman Pick and one - Malignant histiocytosis vs virus associated hemophagocytic syndrome. One of our friends - John Cochran has made my work easier by sending me a nice write up on Gauchers which I have pasted here. Thanks Dr.John and Vijay Varma. 3 images of the Bone Marrow aspirate of this case is published below This is what John wrote:
Geneticalliance.org
National Gaucher Foundation Gaucher disease Symptoms National Organization for Rare Disorders (NORD) Gaucher disease eMedicine - Gaucher disease
http://www.geneticalliance.org/ws_display.asp?filter=resources_by_disease&keywor
Gaucher Disease Synonyms, Eastern Carolina
Gaucher disease Synonyms University Health Systems of Eastern Carolina serves tarboro, ahoskie, edento, winsor, maxhead, dear county, outebanks counties
http://www.uhseast.com/112969.cfm

Extractions: 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. 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. Vaincre Les Maladies Lysosomales
Case Study 12 ANSWERS 1. C 2. C Discussion Gaucher S Disease Is
Gaucher s disease is the most prevalent lysosomal storage disorder and is Type II (acute neuronopathic) Gaucher s disease presents in infancy and is
http://wwwpathnet.medsch.ucla.edu/educ/lecture/pathrev/casestudy/case12/case12a.

Extractions: Gaucher's disease is the most prevalent lysosomal storage disorder and is common in Ashkanazi Jews. It is an autosomal recessive lysosomal storage disease due to a deficiency of glucocerebrosidase. This enzyme deficiency leads to accumulation of glucocerebroside in tissue macrophages within the liver, spleen, lymph nodes and bone marrow. The glucocerebrosidase gene is located on chromosome 1q21. There are three forms of the disease: type I, which accounts for 99% of cases, first appears in adult life and presents with splenomegaly, bone pain, pathologic fractures or consequences of pancytopenia. Patients are diagnosed by the presence of "Gaucher cells" on biopy and enzymatic assays indicating reduced but detectable levels of glucocerebrosidase activity. Longevity is not markedly shortened.Type II (acute neuronopathic) Gaucher's disease presents in infancy and is associated with central nervous system dysfunction, including convulsions and progressive mental deterioration. These patients have no detectable glucocerebrosidase activity. Type III is intermediate between types I and II, presenting in juveniles with systemic involvement but including central nervous system disease in the teens or twenties.
Bombay Hospital Journal - Case Reports
Storage cells in spleen are known to occur in Gaucher s disease.2 Ultrastructurally Gaucher s cells show cytoplasmic inclusion with smooth walled tubules.
http://bhj.org/journal/2005_4701_jan/html/case_Gaucher.htm

Extractions: Home Table of Contents Case Reports Case Reports Gaucher like Cells in Spleen in Thalassaemia Major Hema Salkade*, Nikhil Sangle**, Meenakshi Balasubramaniam***, Jyoti Rege*** The relationship of Gaucher like cells in spleen in Thalassaemia major is shown in our case. We report herewith Gaucher like cells seen in spleen with the help of electron microscope in Thalassaemia major. Introduction Histiocytes have been described in the bone marrow and spleen of subjects with thalassaemia major. This report documents the presence of Gaucher like cells in spleen along with electron microscopic study in a patient with thalassaemia major and establishes the relationship of these cells to those found in Gaucher's disease. Case Report Sixteen-year-old male, a known case of thalassaemia major since 5 years of age had massive splenomegaly. He was receiving 2 units of whole blood transfusion every month. Therapeutic splenectomy was performed. Spleen weighed 700 gm. On cut surface it was tan colour and homogeneous. Histologically on Haematoxylin and Eosin stain, spleen showed few lymphoid follicles with dilated sinusoids packed with foamy histiocytes, which showed eccentric nucleus with abundant eosinophilic cytoplasm with crumpled silk appearance (Fig. 1). These cells were PAS positive and diastase resistant. Zeihl-Neilsen and GMS stains are negative for acid-fast bacilli and fungus respectively. Electron microscopy showed cells with eccentric nucleus and normal to degenerated mitochondria in the cytoplasm. Cytoplasm showed inclusion, which were fibrillary, surrounded by a single membrane (Figs. 2,3).
Gaucher's Disease - Patient UK
Gaucher s disease. They have not been checked to see if Gaucher s disease is included but these large sites are comprehensive.
http://www.patient.co.uk/showdoc/312/
Curriculum Vitae: Samuel H. Doppelt, M.D.
Gaucher s disease; pathophysiology of bone loss in Gaucher s disease; infusion therapy Evaluation of Gaucher s disease Using Magnetic Resonance Imaging.
http://www.fda.gov/cber/advisory/bp/doppelt.htm

Extractions: M.D. University of Chicago-Pritzker School of Medicine, Chicago POSTDOCTORAL TRAINING: Internships, Residencies and Fellowships: Internship in Straight Surgery, University of Iowa, Iowa City Iowa Research Fellowship with Dr. Roy V. Talmage, Division of Orthopaedic Surgery, University of North Carolina School of Medicine Junior Resident, Orthopaedic Surgery, North Carolina Memorial Hospital, Chapel Hill, North Carolina July-Dec. 1976 Senior Resident, Orthopaedic Surgery, Wake County Hospital, Raleigh, North Carolina Jan.-June 1977 Senior Resident, Orthopaedic Surgery, North Carolina Memorial Hospital, Chapel Hill, North Carolina July-Dec. 1977 Chief Resident, Orthopaedic Surgery, Wake County Memorial Hospital, Chapel Hill, North Carolina Clinical and Research Fellow in Orthopaedics, (Oncology and limb salvage surgery) Massachusetts General Hospital
Rarelink.net - Diagnoselisten Gaucher Disease Type III
Du er her Hjem Diagnoselisten Gaucher disease type III Gaucher Foreningen i Danmark Morbus Gaucherföreningen
http://www.rarelink.no/diagnosedetail.jsp?diagnoseId=93
Rarelink.net - Diagnoselisten Gaucher Disease Type III (Morbus
Du er her Hjem Diagnoselisten Gaucher disease type III (Morbus Gaucher) Gaucher Foreningen i Danmark Morbus Gaucherföreningen
http://www.rarelink.no/diagnosedetail.jsp?diagnoseId=93&synonymId=162

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