Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme α-galactosidase A (α-Gal A). It is an X-linked, lysosomal enzymopathy due to mutations in the galactosidase alpha gene (GLA), encoding the α-Gal A. To date,...

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Detalles Bibliográficos
Autores principales: Duro, Giovanni, Zizzo, Carmela, Cammarata, Giuseppe, Burlina, Alessandro, Burlina, Alberto, Polo, Giulia, Scalia, Simone, Oliveri, Roberta, Sciarrino, Serafina, Francofonte, Daniele, Alessandro, Riccardo, Pisani, Antonio, Palladino, Giuseppe, Napoletano, Rosa, Tenuta, Maurizio, Masarone, Daniele, Limongelli, Giuseppe, Riccio, Eleonora, Frustaci, Andrea, Chimenti, Cristina, Ferri, Claudio, Pieruzzi, Federico, Pieroni, Maurizio, Spada, Marco, Castana, Cinzia, Caserta, Marina, Monte, Ines, Rodolico, Margherita Stefania, Feriozzi, Sandro, Battaglia, Yuri, Amico, Luisa, Losi, Maria Angela, Autore, Camillo, Lombardi, Marco, Zoccali, Carmine, Testa, Alessandra, Postorino, Maurizio, Mignani, Renzo, Zachara, Elisabetta, Giordano, Antonello, Colomba, Paolo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320967/
https://www.ncbi.nlm.nih.gov/pubmed/30477121
http://dx.doi.org/10.3390/ijms19123726

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