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- W2425103535 abstract "Gaucher's disease (GD) also named glucocerebroside lipidosis, is the most common kind of 1ysosomal storage disorder. It results from an autosomal recessive deficiency of the lysosomal enzyme acid β-glucosidase/ β-glucocerebrosidase (GBA), which is responsible for hydrolysis of glucocerebroside/glucosylceramide (GlcCer) into glucose and ceramide. Absent or reduced enzymatic activity of GBA leads to multisystemic accumulation of GlcCer in mononuclear phagocyte system and various tissues, such as brain, liver, spleen and so on, causing brain injury, liver splenomegaly, bone damage, the reduction of blood cells and individual growth retardation. GD type I could be treated by enzyme replacement therapy (ERT), but GD types II and III have not effective treatment. In this review, we summarize the recent progress on pathogenic mechanism and therapies in GD." @default.
- W2425103535 created "2016-06-24" @default.
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- W2425103535 date "2015-06-01" @default.
- W2425103535 modified "2023-09-23" @default.
- W2425103535 title "[Pathogenic mechanism and therapies for Gaucher's disease]." @default.
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- W2425103535 doi "https://doi.org/10.16288/j.yczz.14-459" @default.
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