Article
Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease.
Journal of medical genetics - 1 Apr 2015
Smid Bouwien E, van der Tol Linda, Biegstraaten Marieke, Linthorst Gabor E, Hollak Carla E M, Poorthuis Ben J H M
Abstract excerpt
BACKGROUND: Fabry disease (FD), a lysosomal storage disorder caused by α-galactosidase A (GLA) gene variants, has a heterogeneous phenotype. GLA variants can lead to classical FD, an attenuated non-classical phenotype, or no disease at all. This study investigates the value of plasma globotriaosylsphingosine (lysoGb3) to distinguish between these groups. This is of particular importance in the diagnosis of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.