期刊
NEUROTHERAPEUTICS
卷 5, 期 4, 页码 633-637出版社
SPRINGER
DOI: 10.1016/j.nurt.2008.07.004
关键词
hereditary inclusion body myopathy; sialic acid; GNE gene; distal myopathy
资金
- German-Israel Foundation (GIF)
- Association Fran aise Contre les Myopathies
- Israel Science Foundation (ISF)
- Neuromuscular Disease Foundation (NDF)
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 disease features that may be relevant for further understanding of the metabolic impairment of HIBM and its future therapy. It also addresses the biochemical basis behind the substrate supplementation therapy designed for this condition.
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