High Variability of Fabry Disease Manifestations in an Extended Italian Family

Fabry disease (FD) is an inherited metabolic disorder caused by partial or full inactivation of the lysosomal hydrolase α-galactosidase A (α-GAL). The impairment of α-GAL results in the accumulation of undegraded glycosphingolipids in lysosomes and subsequent cell and microvascular dysfunctions. Thi...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Biomed Res Int
Main Authors: Cammarata, Giuseppe, Fatuzzo, Pasquale, Rodolico, Margherita Stefania, Colomba, Paolo, Sicurella, Luigi, Iemolo, Francesco, Zizzo, Carmela, Alessandro, Riccardo, Bartolotta, Caterina, Duro, Giovanni, Monte, Ines
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2015
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4421032/
https://ncbi.nlm.nih.gov/pubmed/25977923
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/504784
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados