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Podocyturia: why it may have added value in rare diseases

Fabry disease is an inherited lysosomal disease in which defects in the GLA gene lead to α-galactosidase-A deficiency, and accumulation of glycosphingolipids, including lyso-Gb3, a podocyte stressor. Therapy is available as enzyme replacement therapy and, for some patients, the chaperone migalastat....

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Detalles Bibliográficos
Autores principales: Sanchez-Niño, Maria Dolores, Perez-Gomez, Maria Vanessa, Valiño-Rivas, Lara, Torra, Roser, Ortiz, Alberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407136/
https://www.ncbi.nlm.nih.gov/pubmed/30863545
http://dx.doi.org/10.1093/ckj/sfy081