Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening

被引：0
|
作者：
Yiming Lin
Bangbang Lin
Yanru Chen
Zhenzhu Zheng
Qingliu Fu
Weihua Lin
Weifeng Zhang
机构：
[1] Quanzhou Maternity and Children’s Hospital,Center of Neonatal Disease Screening
[2] Quanzhou Maternity and Children’s Hospital,Administrative Office
[3] Quanzhou Maternity and Children’s Hospital,Department of Neonatology
来源：
Orphanet Journal of Rare Diseases | / 16卷
关键词：
Primary carnitine deficiency; Newborn screening; gene; Free carnitine; Tandem mass spectrometry;
D O I：
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