Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy

GNE myopathy is a rare, autosomal recessive, inborn error of sialic acid metabolism, caused by mutations in GNE, the gene encoding UDP-N-acetyl-glucosamine-2-epimerase/N-acetylmannosamine kinase. The disease manifests as an adult-onset myopathy characterized by progressive skeletal muscle weakness a...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab
Main Authors: Xu, Xin, Wang, Amy Q., Latham, Lea L., Celeste, Frank, Ciccone, Carla, Malicdan, May Christine, Goldspiel, Barry, Terse, Pramod, Cradock, James, Yang, Nora, Yorke, Selwyn, McKew, John C., Gahl, William A., Huizing, Marjan, Carrillo, Nuria
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5949875/
https://ncbi.nlm.nih.gov/pubmed/28641925
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2017.04.010
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