Severe clinical manifestation of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency associated with two novel mutations: a case report
线粒体3-羟基-3-甲基戊二酰辅酶A合成酶缺乏症伴两种新突变的严重临床表现:病例报告
期刊:BMC Pediatrics
影响因子:2
doi:10.1186/s12887-019-1747-5
Liu, Hao; Miao, Jing-Kun; Yu, Chao-Wen; Wan, Ke-Xing; Zhang, Juan; Yuan, Zhao-Jian; Yang, Jing; Wang, Dong-Juan; Zeng, Yan; Zou, Lin