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Article

Six cases of citrin deficiency in Korea.

International journal of molecular medicine - 1 Dec 2007

Ko Jung Min, Kim Gu-Hwan, Kim Ju-Hyun, Kim Jae Young, Choi Jin-Ho, Ushikai Miharu, Saheki Takeyori, Kobayashi Keiko, Yoo Han-Wook

Abstract excerpt

Citrin deficiency resulting from mutations of the SLC25A13 gene is associated with two major clinical phenotypes; neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and adult-onset type 2 citrullinemia (CTLN2). In Korea, 6 cases of citrin deficiency were diagnosed based on biochemical and molecular findings. Four NICCD patients (2 boys and 2 girls) presented high citrulline levels on a newborn...

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PMID: 17982687

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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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