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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....
Autores principales: | Sanchez-Niño, Maria Dolores, Perez-Gomez, Maria Vanessa, Valiño-Rivas, Lara, Torra, Roser, Ortiz, Alberto |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2018
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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 |
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