Browsing by Subject "1-Deoxynojirimycin"
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Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease. (2013-08-01)Fabry disease (FD) is an X-linked hereditary defect of glycosphingolipid storage caused by mutations in the gene encoding the lysosomal hydrolase α-galactosidase A (GLA, α-gal A). To date, over 400 mutations causing amino ...