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Article

Genetic and clinical features of patients with intrahepatic cholestasis caused by citrin deficiency.

Journal of pediatric endocrinology & metabolism : JPEM - 27 Jun 2023

Sun Wenjun, Zhang Xiaoxi, Su Hang, Wang Xiaoxia, Qin Fang, Gong Xiangling, Wang Bo, Yu Fei

Abstract excerpt

OBJECTIVES: Citrin deficiency (CD) is an autosomal recessive disease caused by mutations of the SLC25A13 gene, plasma bile acid profiles detected by liquid chromatography-tandem mass spectrometry (LC-MS/MS) could be an efficient approach for early diagnosis of intrahepatic cholestasis. The aim of this study was to investigate the genetic testing and clinical characteristics of a series of patients with CD, and to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37146272
DOI: 10.1515/jpem-2022-0616

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