Genetic variants associated with Fabry disease progression despite enzyme replacement therapy

Enzyme replacement therapy (ERT) has been widely used for the treatment of Fabry disease, a rare X-linked recessive disorder due to absent or reduced activity of lysosomal enzyme α-galactosidase A. It is still unclear why some patients under ERT show disease progression typically with renal, cardiov...

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Detalles Bibliográficos
Autores principales: Scionti, Francesca, Di Martino, Maria Teresa, Sestito, Simona, Nicoletti, Angela, Falvo, Francesca, Roppa, Katia, Arbitrio, Mariamena, Guzzi, Pietro Hiram, Agapito, Giuseppe, Pisani, Antonio, Riccio, Eleonora, Concolino, Daniela, Pensabene, Licia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2017
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5746088/
https://www.ncbi.nlm.nih.gov/pubmed/29296186
http://dx.doi.org/10.18632/oncotarget.22505

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