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Article

Genotypic and phenotypic features of citrin deficiency: five-year experience in a Chinese pediatric center.

International journal of molecular medicine - 1 Jul 2011

Song Yuan-Zong, Deng Mei, Chen Feng-Ping, Wen Fang, Guo Li, Cao Shui-Liang, Gong Jian, Xu Hao, Jiang Guang-Yu, Zhong Le, Kobayashi Keiko, Saheki Takeyori, Wang Zi-Neng

Abstract excerpt

Citrin is a liver-type aspartate/glutamate carrier (AGC) encoded by the gene SLC25A13. Two phenotypes for human citrin deficiency have been described, namely the adult-onset citrullinemia type II (CTLN2) and the neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). However, citrin deficiency currently remains a perplexing and poorly recognized disorder. In particular, description of post-NICCD...

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Identifiers

PMID: 21424115
DOI: 10.3892/ijmm.2011.653

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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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