Article
A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease.
Molecular genetics and metabolism - 1 Sept 2017
Talbot Andrew, Nicholls Kathy, Fletcher Janice M, Fuller Maria
Abstract excerpt
Fabry disease (FD) results from impaired globotriaosylceramide (Gb3) catabolism, due to a deficiency of the lysosomal hydrolase, α-galactosidase A (α-GalA). As a direct consequence, the deacetylated derivative, globotriaosylsphingosine (lyso-Gb3), is produced and contemporary evidence exemplifies its use as a biomarker. Here we developed a simple method to enable quantification of lyso-Gb3 in just 0.01mL of...
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