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Article

Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients.

Journal of inherited metabolic disease - 1 Dec 2010

Chew Hui Bein, Ngu Lock Hock, Zabedah Md Yunus, Keng Wee Teik, Balasubramaniam Shanti, Hanifah Mohd Jamil M, Kobayashi Keiko

Abstract excerpt

Citrin deficiency, aetiologically linked to mutations of SLC25A13 gene, has two clinical phenotypes, namely adult-onset type II citrullinaemia (CTLN2) and neonatal/infantile intrahepatic cholestasis, caused by citrin deficiency (NICCD). Malaysian patients with NICCD, especially of Malay and East...

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Source

Identifiers

PMID: 21161389
DOI: 10.1007/s10545-010-9248-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21161389-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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