Globotriaosylsphingosine (Lyso-Gb3) as a biomarker for cardiac variant (N215S) Fabry disease
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Inherited Metabolic Disease"
DOI: 10.1007/s10545-017-0127-2
Abstract: Fabry disease (FD) is a multi-systemic X-linked lysosomal disorder caused by the deficient activity of α-galactosidase-A enzyme, which leads to accumulation of glycosphingolipids in various body tissues. The N215S mutation is a known variant of… read more here.
Keywords: cardiac variant; lyso gb3; disease; gb3 ... See more keywords
Abstract 13424: Demographic and Echocardiographic Predictors of Later-onset Cardiac Variant of Fabry Disease Among Chinese Patients With Left Ventricular Hypertrophy
Sign Up to like & getrecommendations! Published in 2020 at "Circulation"
DOI: 10.1161/circ.142.suppl_3.13424
Abstract: Introduction: The genetic mutation IVS4+919G>A commonly found among Chinese is associated with later-onset cardiac variant of Fabry disease (FD). Patients with left ventricular hypertrophy (LVH) may be screened for FD by measuring plasma α-galactosidase activity.… read more here.
Keywords: among chinese; demographic echocardiographic; cardiac variant; onset cardiac ... See more keywords