Llwytho...

The hereditary inclusion body myopathy enigma and its future therapy

Hereditary inclusion body myopathy (HIBM) is a genetic muscle disease due to mutations in the gene encoding the enzyme complex UDP-N-acetylglucosamine 2 epimerase-N-acetylmannosamine kinase (GNE), which catalyzes the rate-limiting step in sialic acid production. The review describes some of the dise...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Neurotherapeutics
Prif Awduron: Argov, Zohar, Mitrani-Rosenbaum, Stella
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Springer New York 2008
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4514692/
https://ncbi.nlm.nih.gov/pubmed/19019317
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nurt.2008.07.004
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