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Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q(10) content
Coenzyme Q(10) (CoQ(10)) deficiency is associated to a variety of clinical phenotypes including neuromuscular and nephrotic disorders. We report two unrelated boys presenting encephalopathy, ataxia, and lactic acidosis, who died with necrotic lesions in different areas of brain. Levels of CoQ(10) an...
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| 出版年: | Eur J Hum Genet |
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| 主要な著者: | , , , , , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Nature Publishing Group
2016
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4755364/ https://ncbi.nlm.nih.gov/pubmed/26014431 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.112 |
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