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Article

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK.

Journal of inherited metabolic disease - 1 Dec 2009

Hutchin T, Preece M A, Hendriksz C, Chakrapani A, McClelland V, Okumura F, Song Y-Z, Iijima M, Kobayashi K, Saheki T, McKiernan P, Baumann U

Abstract excerpt

Citrin deficiency is a disorder with two phenotypes: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), and adult-onset type II citrullinaemia (CTLN2). NICCD presents in the first few weeks of life with prolonged cholestasis and metabolic abnormalities including aminoacidaemia (notably citrulline, tyrosine, threonine, arginine and methionine) and galactosuria. Symptoms resolve within the first...

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PMID: 19517266
DOI: 10.1007/s10545-009-1116-x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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