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Fibrosis: a key feature of Fabry disease with potential therapeutic implications
Fabry disease is a rare X-linked hereditary disease caused by mutations in the AGAL gene encoding the lysosomal enzyme alpha-galactosidase A. Enzyme replacement therapy (ERT) is the current cornerstone of Fabry disease management. Involvement of kidney, heart and the central nervous system shortens...
Autores principales: | Weidemann, Frank, Sanchez-Niño, Maria D, Politei, Juan, Oliveira, João-Paulo, Wanner, Christoph, Warnock, David G, Ortiz, Alberto |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3750297/ https://www.ncbi.nlm.nih.gov/pubmed/23915644 http://dx.doi.org/10.1186/1750-1172-8-116 |
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