Article
Fabry disease: GLA deletion alters a canonical splice site in a family with neuropsychiatric manifestations.
Metabolic brain disease - 1 Feb 2021
Varela Patrícia, Carvalho Gerson, Martin Renan Paulo, Pesquero João Bosco
Abstract excerpt
Fabry disease (FD) is a rare X-linked glycosphingolipidosis caused by mutations in GLA, a gene responsible for encoding α-galactosidase A, an enzyme required for degradation of glycosphingolipids, mainly globotriaosylceramide (Gb3) in all cells of the body. FD patients present a broad spectrum of clinical phenotype and many symptoms are shared with other diseases, making diagnosis challenging. Here we describe a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.