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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...
Zapisane w:
| Wydane w: | PLoS One |
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| Główni autorzy: | , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Public Library of Science
2017
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| Hasła przedmiotowe: | |
| Dostęp online: | 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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