{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T13:01:47Z","timestamp":1790254907102,"version":"4.1.0"},"reference-count":10,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T00:00:00Z","timestamp":1790208000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T00:00:00Z","timestamp":1790208000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>In an infant with cholestasis and recurrent hypoglycemia, the combination of hypercitrullinemia, hypermethioninemia, and hyperthreoninemia should prompt testing for citrin deficiency, because early metabolic and genetic diagnosis allows targeted nutritional treatment and rapid clinical improvement.<\/jats:p>","DOI":"10.1002\/ccr3.73358","type":"journal-article","created":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T12:07:42Z","timestamp":1790251662000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Cholestatic Liver Failure and Hypoglycemia in a Newborn: A Mitochondrial Pathology due to Citrin Deficiency"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0799-037X","authenticated-orcid":false,"given":"Julien","family":"Neveu","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology H\u00f4pitaux P\u00e9diatriques de Nice CHU\u2010Lenval  Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathilde","family":"Butori","sequence":"additional","affiliation":[{"name":"Pediatric Gastroenterology Department H\u00f4pitaux P\u00e9diatriques de Nice CHU\u2010Lenval  Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4710-4793","authenticated-orcid":false,"given":"Anne","family":"Spraul","sequence":"additional","affiliation":[{"name":"Biochemistry Department CHU Bic\u00eatre, AP\u2010HP, Paris\u2010Saclay University  Le Kremlin\u2010Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Hinault\u2010Boyer","sequence":"additional","affiliation":[{"name":"Laboratoire de Biochimie, H\u00f4pital Pasteur CHU de Nice  Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6833-9359","authenticated-orcid":false,"given":"Mourad","family":"Na\u00efmi","sequence":"additional","affiliation":[{"name":"Laboratoire de Biochimie, H\u00f4pital Pasteur CHU de Nice  Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,24]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"crossref","DOI":"10.3389\/fped.2024.1293356","article-title":"Biochemical Characteristics, Genetic Variants and Treatment Outcomes of 55 Chinese Cases With Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency","volume":"12","author":"Li J.","year":"2024","journal-title":"Frontiers in Pediatrics"},{"key":"e_1_2_12_3_1","doi-asserted-by":"crossref","first-page":"1129","DOI":"10.1002\/jimd.12772","article-title":"Citrin Deficiency\u2010The East\u2010Side Story","volume":"47","author":"H\u00e4berle J.","year":"2024","journal-title":"Journal of Inherited Metabolic Disease"},{"key":"e_1_2_12_4_1","doi-asserted-by":"crossref","first-page":"1134","DOI":"10.1002\/jimd.12673","article-title":"Improved Sensitivity and Specificity for Citrin Deficiency Using Selected Amino Acids and Acylcarnitines in the Newborn Screening","volume":"47","author":"Kido J.","year":"2024","journal-title":"Journal of Inherited Metabolic Disease"},{"key":"e_1_2_12_5_1","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1007\/s10545-007-0506-1","article-title":"Clinical Pictures of 75 Patients With Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD)","volume":"30","author":"Ohura T.","year":"2007","journal-title":"Journal of Inherited Metabolic Disease"},{"key":"e_1_2_12_6_1","doi-asserted-by":"crossref","DOI":"10.1002\/jimd.12818","article-title":"My Path to Citrin Deficiency","volume":"48","author":"Walker J. 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