Article
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
Human mutation - 1 Jan 2016
Lukas Jan, Scalia Simone, Eichler Sabrina, Pockrandt Anne-Marie, Dehn Nicole, Cozma Claudia, Giese Anne-Katrin, Rolfs Arndt
Abstract excerpt
Fabry disease (FD) is a rare metabolic disorder of glycosphingolipid storage caused by mutations in the GLA gene encoding lysosomal hydrolase α-galactosidase A (α-gal A). Recently, the diagnostic procedure for FD has advanced in several ways, through the development of a specific biomarker (lyso-Gb3) and the implementation of newborn screenings, which acted as a catalyst to augment general awareness of the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.