Beyond citrulline: The diagnostic accuracy of amino acid ratios in neonatal intrahepatic cholestasis caused by citrin deficiency.

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Title: Beyond citrulline: The diagnostic accuracy of amino acid ratios in neonatal intrahepatic cholestasis caused by citrin deficiency.
Authors: Choi S; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Republic of Korea., Choi N; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Republic of Korea., Kim HY; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea; Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Republic of Korea., Lee J; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Republic of Korea., Ko JS; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Republic of Korea., Ko JM; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Republic of Korea; Rare Disease Center, Seoul National University Hospital, Seoul, Republic of Korea. Electronic address: jmko@snu.ac.kr.
Source: Molecular genetics and metabolism [Mol Genet Metab] 2026 Aug; Vol. 148 (4), pp. 110201. Date of Electronic Publication: 2026 Jul 05.
Publication Type: Journal Article
Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1096-7206
DOI:10.1016/j.ymgme.2026.110201