GAMT基因变异导致脑肌酸缺乏综合征2型临床特征及预后研究

杨蕾, 方方, 宋天羽, 徐超龙

A clinical and prognosis study of five patients with cerebral creatine deficiency syndrome 2 caused by GAMT gene mutations

YANG Lei, FANG Fang, SONG Tianyu, XU Chaolong

临床儿科杂志 . 2024, (12): 1039 -1046 . DOI: 10.12372/jcp.2024.24e0300