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...

ver descrição completa

Detalhes bibliográficos

Principais autores:	Yiming Lin, Weihua Lin, Yanru Chen, Chunmei Lin, Zhenzhu Zheng, Jianlong Zhuang, Qingliu Fu
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2020-10-01
coleção:	BMC Pediatrics
Assuntos:	Primary carnitine deficiency Neonatal intrahepatic cholestasis caused by citrin deficiency Newborn screening Intrahepatic cholestasis Ventricular septal defec
Acesso em linha:	http://link.springer.com/article/10.1186/s12887-020-02372-7
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!