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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
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  Data: Beyond citrulline: The diagnostic accuracy of amino acid ratios in neonatal intrahepatic cholestasis caused by citrin deficiency.
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  Data: <searchLink fieldCode="AU" term="%22Choi+S%22">Choi S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Choi+N%22">Choi N</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kim+HY%22">Kim HY</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lee+J%22">Lee J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Ko+JS%22">Ko JS</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Ko+JM%22">Ko JM</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%229805456%22">Molecular genetics and metabolism</searchLink> [Mol Genet Metab] 2026 Aug; Vol. 148 (4), pp. 110201. <i>Date of Electronic Publication: </i>2026 Jul 05.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Academic+Press%22">Academic Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9805456 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1096-7206 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210967192%22">10967192 </searchLink><i>NLM ISO Abbreviation: </i>Mol Genet Metab <i>Subsets: </i>MEDLINE
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        Value: 10.1016/j.ymgme.2026.110201
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      – TitleFull: Beyond citrulline: The diagnostic accuracy of amino acid ratios in neonatal intrahepatic cholestasis caused by citrin deficiency.
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              Text: 2026 Aug
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              Value: 148
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            – TitleFull: Molecular genetics and metabolism
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