نتایج جستجو برای: glucocerebrosidase
تعداد نتایج: 825 فیلتر نتایج به سال:
Gaucher disease is a relentless progressive multi-systemic disorder caused by deficiency or inadequate function of lysosomal β-glucocerebrosidase. The resultant accumulation of the substrate glucocerebroside causes the organ damage. The classic clinical picture of organomegaly, cytopenia and bone pain or disease should always alert the practitioner and place Gaucher disease into the differentia...
OBJECTIVE Easy tool for newborn screening of Gaucher and Hurler diseases. METHODS Method comparison between fluorometric enzymatic activity assay on a digital microfluidic platform and micro-titer plate bench assay was performed on normal (n = 100), Gaucher (n = 10) and Hurler (n = 7) dried blood spot samples. RESULTS Enzymatic activity analysis of glucocerebrosidase (Gaucher) and α-l-iduro...
Gaucher's disease is a metabolic disorder characterized by the accumulation of excessive quantities of glucocerebroside in the reticuloendothelial system. Brady et al. have demonstrated that individuals with this disease have deficient amounts of glucocerebrosidase, one of the enzymes required for complete degradation of the lipid of the red cell membrane.' The characteristic cell of Gaucher's ...
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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