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- W2040771451 abstract "Background: Fabry disease (FD) is an X-linked disorder of glycosphingolipid catabolism due to a deficiency of lysosomal enzyme α-galactosidase A. This defect results in accumulation of mostly globotriaosylceramide (Gb3) within cells causing a systemic disorder including vasculopathy that leads to strokes, cardiovascular and renal dysfunction. Enzyme replacement therapy (ERT) produces modest effect only and no reduction in the risk of strokes and other vascular events." @default.
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- W2040771451 date "2007-10-01" @default.
- W2040771451 modified "2023-10-18" @default.
- W2040771451 title "628: Cellular and tissue distribution of globotriaosylceramide in fabry disease" @default.
- W2040771451 doi "https://doi.org/10.1016/j.jocn.2007.02.059" @default.
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