Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn

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作者
Yiming Lin
Weihua Lin
Yanru Chen
Chunmei Lin
Zhenzhu Zheng
Jianlong Zhuang
Qingliu Fu
机构
[1] Quanzhou Maternity and Children’s Hospital,Neonatal Disease Screening Center
[2] Quanzhou Maternity and Children’s Hospital,Prenatal Diagnosis Center
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关键词
Primary carnitine deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; Newborn screening; Intrahepatic cholestasis; Ventricular septal defec;
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