منابع مشابه
Gaucher Disease and Gaucher Cells
4. Özsoylu S, Allahverdi H, Laleli Y, Pirnar A. Platelet survival in childhood idiopathic thrombocytopenic purpura in remission. J Pediatr 1976;89:388-390. 5. Özsoylu Ş, Karabent A, Irken G, Tuncer M. Antiplatelet antibody in childhood idiopathic thrombocytopenic purpura. Am J Hematol 1991;36:82-85. 6. Özsoylu Ş, Ertürk G. Oral megadose methylprednisolone for acute childhood idiopathic thromboc...
متن کاملGaucher disease
ةيداع ريغ ةيريرس تاملاع نم يناعي تاونس 8 هرمع يبص انفصو نم ضرم وه "رشوج" ضرم .ةرمدم جئاتن عم رشوج ضرم نم صقن نع جتنيو ةنمزلما ةيموزوزيللا نيزختلا تابارطضا ضارمأ رهاظبم "رشوج" ضرم زيمتي "زيديسوربيريسوكولج" يمزنأ يف .يعانلما زاهلجا رثأت ىلع يوطنت ام اًبلاغ نكلو ةفلتخم ةيريرس ساسأ ىلع "رشوج" ضرلم ةزيمتم ةيعرف عاونأ 3 تفصو دقل صيخشت متيو .يبصعلا زاهلجا رثأت ضارعأ بايغ وأ دوجو روتح ةسارد ،طاشنلا صحف ...
متن کاملParkinson disease in Gaucher disease
BACKGROUND Gaucher disease (GD) is an inborn error of metabolism caused by mutations in the gene (GBA) coding for glucocerebrosidase (GCase), inherited in an autosomal recessive pattern. GD patients have up to 9% risk of developing PD. CASE PRESENTATION We report two patients with GD that developed PD at different disease stages. CONCLUSION We reviewed the literature on the coexistence of P...
متن کاملGaucher disease phenotypes outflanked?
One of the major puzzles in modern human genetics is the fact that patients with the same genotype for a diseasecausing mutation may express very different clinical manifestations. Gaucher disease is one of the more common, clinically important, autosomal recessive disorders. In this issue, Winfield et al. (1997) point out that the problem of phenotypic variation is a serious one in this disord...
متن کاملMetabolic Disorders Gaucher Disease
Touch MEDical MEDia 15 Abstract Gaucher disease, which is caused by an inherited glucocerebrosidase deficiency, is the most prevalent lysosomal storage disease worldwide. Estimated prevalence of Gaucher disease is 1:50,000 in most countries and the disease has its highest incidence in the Ashkenazi Jewish population. Type 1 (non-neuropathic) Gaucher disease is by far the most common form. Gauch...
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ژورنال
عنوان ژورنال: JAMA
سال: 1996
ISSN: 0098-7484
DOI: 10.1001/jama.1996.03530310054033