NGLY1 基因突变致先天性糖基化障碍Ⅳ型一家系报告

李治,　刘芳

NGLY1 gene mutation causes congenital disorder of glycosylation type IV: a family report

LI Zhi, LIU Fang

临床儿科杂志 . 2018, (12): 904 . DOI: 10.3969/j.issn.1000-3606.2018.12.005