D409H/D409H genotype in Gaucher-like disease.
نویسندگان
چکیده
منابع مشابه
Mutational Analysis and Genotype Investigation of Less Known Gaucher Mutations through Haplotype Analysis in Iranian Gaucher patients
Gaucher's disease (GD) is the most frequent lysosomal storage disorder resulting from a deficiency of the enzyme glucocerebrosidase (GBA) which causes the accumulation of glucocerebroside. More than 500 mutations have been reported on the GBA gene so far. In this study, we aimed to investigate more on the genotype of less known mutations through haplotype analysis to explain their disease-causi...
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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...
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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
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 ...
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http://dx.doi.org/10.1590/0100-3984.2016.0070 Leonor Garbin Savarese1, Henrique Simão Trad2, Edwaldo Edner Joviliano1, Valdair Francisco Muglia1, Jorge Elias Junior1 1. Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo (FMRP-USP), Ribeirão Preto, SP, Brazil. 2. CEDIRP – Central de Diagnóstico Ribeirão Preto, Ribeirão Preto, SP, Brazil. Mailing address: Dra. Leonor Garbin Sava...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1997
ISSN: 1468-6244
DOI: 10.1136/jmg.34.2.175