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Article

Citrin deficiency, a perplexing global disorder.

Molecular genetics and metabolism - 1 Jan 2009

Dimmock David, Maranda Bruno, Dionisi-Vici Carlo, Wang Jing, Kleppe Soledad, Fiermonte Giuseppe, Bai Renkui, Hainline Bryan, Hamosh Ada, O'Brien William E, Scaglia Fernando, Wong Lee-Jun

Abstract excerpt

Citrin deficiency, caused by mutations in SLC25A13, can present with neonatal intrahepatic cholestasis or with adult onset neuropsychiatric, hepatic and pancreatic disease. Until recently, it had been thought to be found mostly in individuals of East Asian ancestry. A key diagnostic feature has b...

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Identifiers

PMID: 19036621
DOI: 10.1016/j.ymgme.2008.10.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19036621-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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