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

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

Abstract Background Primary carnitine deficiency (PCD) is an autosomal recessive disorder affecting the carnitine cycle and resulting in defective fatty acid oxidation. Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disorder and one of the main causes...

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Bibliographic Details
Main Authors: Yiming Lin, Weihua Lin, Yanru Chen, Chunmei Lin, Zhenzhu Zheng, Jianlong Zhuang, Qingliu Fu
Format: Article
Language:English
Published: BMC 2020-10-01
Series:BMC Pediatrics
Subjects:
Primary carnitine deficiency
Neonatal intrahepatic cholestasis caused by citrin deficiency
Newborn screening
Intrahepatic cholestasis
Ventricular septal defec
Online Access:http://link.springer.com/article/10.1186/s12887-020-02372-7

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