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...

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Hlavní autoři: Weidemann, Frank, Sanchez-Niño, Maria D, Politei, Juan, Oliveira, João-Paulo, Wanner, Christoph, Warnock, David G, Ortiz, Alberto
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2013
Témata:
Review
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3750297/
https://ncbi.nlm.nih.gov/pubmed/23915644
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-116
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