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

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 of inhe...

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Detalles Bibliográficos
Autores principales: Lin, Yiming, Lin, Weihua, Chen, Yanru, Lin, Chunmei, Zheng, Zhenzhu, Zhuang, Jianlong, Fu, Qingliu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7552534/
https://www.ncbi.nlm.nih.gov/pubmed/33050909
http://dx.doi.org/10.1186/s12887-020-02372-7

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