The use of globotriaosylsphingosine to detect and monitor Fabry disease
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by a deficiency of the α-galactosidase-A (α-gal-A) enzyme. The lack of enzymatic activity results in the accumulation of glycosphingolipids (GSLs) in the lysosomes of various tissues and organs. Globotriaosylceramide (Gb3) and Globo...
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University of Birmingham
2016
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| Online Access: | https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.694738 |