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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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Vydáno v:BMC Pediatr
Hlavní autoři: Lin, Yiming, Lin, Weihua, Chen, Yanru, Lin, Chunmei, Zheng, Zhenzhu, Zhuang, Jianlong, Fu, Qingliu
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2020
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On-line přístup: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
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