Nalaganje...
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...
Shranjeno v:
| izdano v: | Zhongguo Dang Dai Er Ke Za Zhi |
|---|---|
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
中国当代儿科杂志编辑部
2020
|
| Teme: | |
| Online dostop: | 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 |
| Oznake: |
Označite
Brez oznak, prvi označite!
|