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: a case report and literature review

DOI: 10.7499/j.issn.1008-8830.2018.11.010

Keywords: 线粒体3-羟基3-甲基戊二酰辅酶A合成酶缺乏症,尿代谢谱,HMGCS2基因,婴儿,
Mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase deficiency,Urine metabolic spectrum,HMGCS2 gene,Infant

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