Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease
A Nowak, T Mechtler, DC Kasper, RJ Desnick - Molecular genetics and …, 2017 - Elsevier
Background Fabry disease (FD), an X-linked lysosomal storage disorder, results from the
deficient activity of α-galactosidase A (α-Gal A) and the accumulation of its substrates,
globotriaosylceramide (Gb3) and its deacylated derivative, globotriaosyl-sphingosine (Lyso-
Gb3). Here, we compared the levels of Lyso-Gb3 in dried blood spots (DBS) and sera in
affected males and heterozygotes with the “Classic” and “Later-Onset” phenotypes. Methods
The Lyso-Gb3 concentrations in DBS and sera from 56 FD patients were determined by …
deficient activity of α-galactosidase A (α-Gal A) and the accumulation of its substrates,
globotriaosylceramide (Gb3) and its deacylated derivative, globotriaosyl-sphingosine (Lyso-
Gb3). Here, we compared the levels of Lyso-Gb3 in dried blood spots (DBS) and sera in
affected males and heterozygotes with the “Classic” and “Later-Onset” phenotypes. Methods
The Lyso-Gb3 concentrations in DBS and sera from 56 FD patients were determined by …