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DGUOK相关线粒体DNA耗竭综合征1例报道及文献复习
A boy, aged 4 months, had the major clinical manifestations of prolonged jaundice and hepatomegaly. Multiple biochemical tests revealed abnormal liver function along with elevated alpha-fetoprotein and lactate. Genetic analysis confirmed that the boy had the mutations of c.589C > T(p.Gln197Ter) a...
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| 出版年: | Zhongguo Dang Dai Er Ke Za Zhi |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
中国当代儿科杂志编辑部
2020
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7389589/ https://ncbi.nlm.nih.gov/pubmed/32204766 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2020.03.017 |
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