全羧化酶合成酶缺乏症1 例临床及基因分析
郑宏, 卢婷婷, 陆相朋, 李东晓, 马丙祥, 杨艳玲
The clinical and genetic features of holocarboxylase synthetase deficiency in a male patient
ZHENG Hong, LU Tingting, LU Xiangpeng, LI Dongxiao, MA Bingxiang, YANG Yanling
临床儿科杂志
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2017, (8): 605
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DOI: 10.3969/j.issn.1000-3606.2017.08.011