疑难病杂志2026，Vol.25Issue(4)：487-489,3.DOI:10.3969/j.issn.1671-6450.2026.04.019
脑肌酸缺乏综合征Ⅰ型2家系临床表型及基因型分析
Clinical phenotype and genotype analysis of creatine transporter deficiency type Ⅰ in two families
摘要
Abstract
This article reports the clinical data of two cases of cerebral creatine deficiency syndrome type 1(CCDS1)caused by SLC6A8 gene variants,along with a literature review.关键词
脑肌酸缺乏综合征Ⅰ型/SLC6A8基因/肌酸转运蛋白缺乏症/SLC6A8缺乏症/临床表型Key words
Cerebral creatine deficiency syndrome type 1/SLC6A8 gene/Creatine transporter deficiency/SLC6A8 deficiency/Clinical phenotype分类
医药卫生引用本文复制引用
朱会,黄宇,王齐艳,朱书瑶,蒯钰,刘星宇,陈艾,罗泽民..脑肌酸缺乏综合征Ⅰ型2家系临床表型及基因型分析[J].疑难病杂志,2026,25(4):487-489,3.基金项目
成都市第五批市级财政科技项目(2021-YF05-01658-SN) The fifth batch of municipal-level fiscal science and technology projects of Chengdu(2021-YF05-01658-SN) （2021-YF05-01658-SN）
