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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Biomed Res Int
Autors principals: Cammarata, Giuseppe, Fatuzzo, Pasquale, Rodolico, Margherita Stefania, Colomba, Paolo, Sicurella, Luigi, Iemolo, Francesco, Zizzo, Carmela, Alessandro, Riccardo, Bartolotta, Caterina, Duro, Giovanni, Monte, Ines
Format: Artigo
Idioma:Inglês
Publicat: Hindawi Publishing Corporation 2015
Matèries:
Research Article
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars