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Article

Clinical and genetic analysis of 26 Chinese patients with neonatal intrahepatic cholestasis due to citrin deficiency.

Clinica chimica acta; international journal of clinical chemistry - 1 Jan 2024

Lin Jiansheng, Lin Weihua, Lin Yiming, Peng Weilin, Zheng Zhenzhu

Abstract excerpt

BACKGROUND: Neonatal intrahepatic cholestasis due to citrin deficiency (NICCD) is an autosomal recessive disorder caused by SLC25A13 genetic mutations. We retrospectively analyzed 26 Chinese infants with NICCD (years 2014-2022) in Quanzhou City. METHODS: The plasma citrulline (CIT) concentration analyzed by tandem mass spectrometry (MS/MS), biochemical parameters and molecular analysis results are presented....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37890575
DOI: 10.1016/j.cca.2023.117617

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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