%0 Journal Article
%T 10例原发性肉碱缺乏症新生儿的基因诊断<br>Genetic diagnosis of 10 neonates with primary carnitine deficiency
%A 谭建强
%A 陈大宇
%A 李哲涛
%A 严提珍
%A 黄际卫
%A 蔡稔&lt
%A br&gt
%A TAN Jian-Qiang
%A CHEN Da-Yu
%A LI Zhe-Tao
%A YAN Ti-Zhen
%A HUANG Ji-Wei
%A CAI Ren
%J 中国当代儿科杂志
%D 2017
%R 10.7499/j.issn.1008-8830.2017.11.005
%K 原发性肉碱缺乏症
%K 串联质谱
%K SLC22A5基因
%K 基因突变
%K 新生儿
%K &lt
%K br&gt
%K Primary carnitine deficiency
%K Tandem mass spectrometry
%K SLC22A5 gene
%K Gene mutation
%K Neonate
%U http://www.zgddek.com/CN/abstract/abstract14396.shtml