Michel Boutin et al.
Journal of the American Society for Mass Spectrometry, 26(3), 499-510 (2015-01-15)
Fabry disease is an X-linked, complex, multisystemic lysosomal storage disorder presenting marked phenotypic and genotypic variability among affected male and female patients. Glycosphingolipids, mainly globotriaosylceramide (Gb(3)) isoforms/analogs, globotriaosylsphingosine (lyso-Gb(3)) and analogs, as well as galabiosylceramide (Ga(2)) isoforms/analogs accumulate in the