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Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model

GNE myopathy (GNEM), also known as hereditary inclusion body myopathy (HIBM), is a late- onset, progressive myopathy caused by mutations in the GNE gene encoding the enzyme responsible for the first regulated step in the biosynthesis of sialic acid (SA). The disease is characterized by distal muscle...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Chan, Yiumo Michael, Lee, Paul, Jungles, Steve, Morris, Gabrielle, Cadaoas, Jaclyn, Skrinar, Alison, Vellard, Michel, Kakkis, Emil
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5340369/
https://ncbi.nlm.nih.gov/pubmed/28267778
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0173261
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