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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...
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| Gepubliceerd in: | Neurotherapeutics |
|---|---|
| Hoofdauteurs: | , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Springer New York
2008
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| Onderwerpen: | |
| Online toegang: | 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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