Fabry Disease

Fabry disease (FD) is a lysosomal storage disorder where deficient or completely absent activity of the enzyme α-galactosidas A leads to accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids in lysosomes. The condition is rare, approximately 1:50,000, although underdiagnosis seems...

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Bibliographic Details
Main Authors: Kåks, Ida, Magnusson, Peter
Format: Book Chapter
Language:English
Published: IntechOpen 2021
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Online Access:https://www.intechopen.com/chapters/77745
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