新生儿筛查发现的原发性肉碱缺乏症临床与基因分析

孙云,　马定远,　王彦云,　程威,　梁晓威,　蒋涛

Clinical and gene analysis of primary carnitine deficiency found by neonatal screening　

　SUN Yun, MA Dingyuan, WANG Yanyun, CHENG Wei, LIANG Xiaowei, JIANG Tao

临床儿科杂志 . 2017, (9): 666 - . DOI: 10.3969/j.issn.1000-3606.2017.09.008