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Article

Characteristics of patients with neonatal intrahepatic cholestasis caused by citrin deficiency in China: long-term follow-up outcomes.

Jornal de pediatria - 1 Jan 2026

Chen Lingli, Lou Jingan, Luo Youyou, Fang Youhong, Sun Mingfang, Yu Jindan

Abstract excerpt

OBJECTIVE: Citrin deficiency (CD) is an autosomal recessive disease caused by mutations in the SLC25A13 gene. This study aimed to expand the current body of data on Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) by analyzing their clinical characteristics, genetic mutation spectrum, and long-term follow-up outcomes. METHODS: From May 2013 to April 2025, 60 children...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42106161
DOI: 10.1016/j.jped.2026.101553
PMCID: PMC13208666

Genes

SLC25A13

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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