脑肌酸缺乏综合征Ⅰ型两家系临床特征及SLC6A8基因变异分析
孙卫华, 庄丹燕, 王瑶, 肖非凡, 吴梦圆, 董欣然, 张萍, 王慧君, 周文浩, 吴冰冰
Clinical features and SLC6A8 gene mutations of cerebral creatine deficiency syndrome I: an analysis of two families
SUN Wei-Hua, ZHUANG Dan-Yan, WANG Yao, XIAO Fei-Fan, WU Meng-Yuan, DONG Xin-Ran, ZHANG Ping, WANG Hui-Jun, ZHOU Wen-Hao, WU Bing-Bing
中国当代儿科杂志
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2020, (5): 482
-487
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DOI: 10.7499/j.issn.1008-8830.2002012
