乙基丙二酸脑病患儿的临床研究及ETHE1 基因新突变1 例报告

李溪远,丁圆,刘玉鹏,王峤,宋金青,叶锦棠,张尧,吴桐菲,杨艳玲

A Chinese girl with ethylmalonic encephalopathy and a novel mutation on ETHE1 gene

LI Xiyuan, DING Yuan, LIU Yupeng, WANG Qiao, SONG Jinqing, YE Jintang, ZHANG Yao, WU Tongfei,YANG YanLing

临床儿科杂志 . 2014, (10): 980 - . DOI: 10.3969 j.issn.1000-3606.2014.10.021