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Article

Early cirrhosis in a patient with type I citrullinaemia (CTLN1).

Journal of inherited metabolic disease - 1 Jan 2004

Güçer S, Aşan E, Atilla P, Tokatli A, Cağlar M

Abstract excerpt

A 17-month-old girl with type I classical citrullinaemia (CTLN1) presenting with early cirrhosis and unusual ultrastructural features of the liver is reported. The patient is homozygous for a splicing mutation in intron 15 of the argininosuccinate synthase gene.

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Identifiers

PMID: 15334737
DOI: 10.1023/b:boli.0000037401.63596.de

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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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