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...

Cur síos iomlán

Na minha lista:
Sonraí Bibleagrafaíochta
Foilsithe in:BMC Pediatr
Main Authors: Lin, Yiming, Lin, Weihua, Chen, Yanru, Lin, Chunmei, Zheng, Zhenzhu, Zhuang, Jianlong, Fu, Qingliu
Formáid: Artigo
Teanga:Inglês
Foilsithe: BioMed Central 2020
Ábhair:
Case Report
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7552534/
https://ncbi.nlm.nih.gov/pubmed/33050909
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-020-02372-7
Clibeanna: Cuir Clib Leis
Gan Chlibeanna, Bí ar an gcéad duine leis an taifead seo a chlibeáil!

Míreanna Comhchosúla