Volumetric absorptive microsampling coupled with UHPLC-MS/MS for the determination of Lyso-Gb3 as Fabry disease diagnostic biomarker [PDF]
Microchemical JournalA volumetric absorptive microsampling (VAMS) combined with UHPLC-MS/MS method was validated for the analysis of lyso-Gb3 in capillary blood. Lyso-Gb3, a biomarker for Fabry disease (FD), was extracted from VAMS device with methanol/acetonitrile/water mixture, in a temperature-controlled ultrasonic bath and the solution was analysed on a Kinetex C18 in ...
Manuela Contin +2 more
exaly +4 more sources
Molecular Genetics and MetabolismBackground: Fabry disease (FD) is a rare, X-linked lysosomal storage disorder in which a lack of alpha-galactosidase (α-Gal A) enzyme activity leads to intracellular accumulation of deacylated globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3), and their analogs.
Albina Nowak +2 more
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Characterization of Fabry disease-associated lyso-Gb3 on mouse colonic ion transport and motility
American Journal of Physiology - Renal Physiology: Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by a deficiency in α-galactosidase A leading to the accumulation of globotriaosylceramide (Gb3) and subsequent increase in globotriaosylsphingosine (lyso-Gb3) in different cells ...
Marco Caprini +2 more
exaly +2 more sources
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LC–MS/MS analysis of plasma lyso-Gb3 in Fabry disease
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How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?
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