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Article

Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Oct 2006

Tsai Ching-Wei, Yang Chih-Chao, Chen Huey-Ling, Hwu Wuh-Liang, Wu Mu-Zon, Liu Kao-Lang, Wu Ming-Shiang

Abstract excerpt

Citrullinemia is a metabolic disorder characterized by elevated plasma concentrations of citrulline and ammonia. Adult-onset citrullinemia (type II, CTLN2) has been attributed to citrin deficiency caused by mutations in the SLC25A13 gene. CTLN2 is associated with a high incidence of hepatocellular carcinoma (HCC) in Japanese. We report a 48-year-old Taiwanese man with citrullinemia, who was in good health until...

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PMID: 17000460
DOI: 10.1016/S0929-6646(09)60274-6

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

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