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Article

Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants.

Journal of Korean medical science - 1 Dec 2007

Ko Jae Sung, Song Jung Han, Park Sung Sup, Seo Jeong Kee

Abstract excerpt

Citrin is a liver-type mitochondrial aspartate-glutamate carrier encoded by the SLC25A13 gene, and its deficiency causes adult-onset type II citrullinemia and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). Here, the authors investigated clinical findings in Korean infants with NICCD and performed mutation analysis on the SLC25A13 gene. Of 47 patients with neonatal cholestasis, three...

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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: 18162705
DOI: 10.3346/jkms.2007.22.6.952
PMCID: PMC2694627

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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