منابع مشابه
Gaucher 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 کاملDivergent phenotypes in Gaucher disease implicate the role of modifiers.
BACKGROUND Gaucher disease is classified into neuronopathic and non-neuronopathic forms with wide phenotypic variation among patients sharing the same genotype. While homozygosity for the common L444P allele usually correlates with the neuronopathic forms, how a defined genotype leads to a phenotype remains unknown. METHODS The genetic and epigenetic factors causing phenotypic differences wer...
متن کاملGaucher 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...
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ژورنال
عنوان ژورنال: Genome Research
سال: 1997
ISSN: 1088-9051,1549-5469
DOI: 10.1101/gr.7.10.950