%0 Journal Article %T 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<br>Mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase deficiency: a case report and literature review %A 马丹 %A 俞丹< %A br> %A MA Dan %A YU Dan %J 中国当代儿科杂志 %D 2018 %R 10.7499/j.issn.1008-8830.2018.11.010 %K 线粒体3-羟基3-甲基戊二酰辅酶A合成酶缺乏症 %K 尿代谢谱 %K HMGCS2基因 %K 婴儿 %K < %K br> %K Mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase deficiency %K Urine metabolic spectrum %K HMGCS2 gene %K Infant %U http://www.zgddek.com/CN/abstract/abstract14633.shtml