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Sialylation of Thomsen-Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy
GNE myopathy is an adult-onset progressive myopathy, resulting from mutations in GNE, the key enzyme of sialic acid synthesis. The pathomechanism of GNE myopathy likely involves aberrant sialylation, since administration of sialic acid itself, or its precursor, N-acetylmannosamine (ManNAc), rescued...
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| 主要な著者: | , , , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2014
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4160177/ https://ncbi.nlm.nih.gov/pubmed/25123033 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2217/bmm.14.2 |
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