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线粒体3-羟基3-甲基戊二酰辅酶A合成酶缺乏症1例并文献复习
Mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase deficiency (HMCSD) is caused by HMGCS2 gene mutation. This paper reports the clinical and genetic features of an infant with this disease. The 8-month-old female infant was admitted to the hospital with diarrhea for 1 week and fever and convulsio...
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| Udgivet i: | Zhongguo Dang Dai Er Ke Za Zhi |
|---|---|
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
中国当代儿科杂志编辑部
2018
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7389032/ https://ncbi.nlm.nih.gov/pubmed/30477625 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2018.11.010 |
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