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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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Zhongguo Dang Dai Er Ke Za Zhi
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 中国当代儿科杂志编辑部 2020
Gaiak:
Sarrera elektronikoa: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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