{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T16:04:18Z","timestamp":1786637058510,"version":"build-2736575974"},"reference-count":13,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.fr","em-consulte.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["La Revue de M\u00e9decine Interne"],"published-print":{"date-parts":[[2026,8]]},"DOI":"10.1016\/j.revmed.2026.02.008","type":"journal-article","created":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T00:17:28Z","timestamp":1774484248000},"page":"453-456","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Un diagnostic tardif de d\u00e9ficit en CPT-2"],"prefix":"10.1016","volume":"47","author":[{"given":"Marie","family":"Gernay","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrien","family":"Bigot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Apolline","family":"Imbard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edouard","family":"Le Guillou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Blasco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chlo\u00e9","family":"Giret","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Benz-De Bretagne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7ois","family":"Maillot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.revmed.2026.02.008_bib0070","series-title":"Inborn metabolic diseases","article-title":"Disorders of mitochondrial fatty acid oxidation & riboflavin metabolism","author":"Morris","year":"2022"},{"issue":"8","key":"10.1016\/j.revmed.2026.02.008_bib0075","doi-asserted-by":"crossref","first-page":"1784","DOI":"10.3390\/molecules25081784","article-title":"Muscle carnitine palmitoyltransferase II (CPT II) deficiency: a conceptual approach","volume":"25","author":"Joshi","year":"2020","journal-title":"Molecules"},{"issue":"2","key":"10.1016\/j.revmed.2026.02.008_bib0080","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1177\/1751143719889766","article-title":"Rhabdomyolysis caused by carnitine palmitoyltransferase 2 deficiency: a case report and systematic review of the literature","volume":"21","author":"Ivin","year":"2020","journal-title":"J Intensive Care Soc"},{"key":"10.1016\/j.revmed.2026.02.008_bib0085","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1016\/j.jocn.2018.11.023","article-title":"Phenotype of carnitine palmitoyltransferase II (CPT II) deficiency: a questionnaire-based survey","volume":"59","author":"Joshi","year":"2019","journal-title":"J Clin Neurosci"},{"issue":"1","key":"10.1016\/j.revmed.2026.02.008_bib0090","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1179\/016164110X12767786356390","article-title":"Genotype\u2013phenotype correlations in a large series of patients with muscle type CPT II deficiency","volume":"33","author":"Anichini","year":"2011","journal-title":"Neurol Res"},{"issue":"3","key":"10.1016\/j.revmed.2026.02.008_bib0095","doi-asserted-by":"crossref","first-page":"70038","DOI":"10.1002\/jimd.70038","article-title":"Diagnosis of inherited metabolic disease in older patients: a systematic literature review","volume":"48","author":"Moio","year":"2025","journal-title":"J Inherit Metab Dis"},{"issue":"4","key":"10.1016\/j.revmed.2026.02.008_bib0100","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1212\/01.wnl.0000318283.42961.e9","article-title":"Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy","volume":"71","author":"Roe","year":"2008","journal-title":"Neurology"},{"issue":"4","key":"10.1016\/j.revmed.2026.02.008_bib0105","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1016\/j.ejim.2007.04.025","article-title":"Severe rhabdomyolysis with hypoglycemia in an adult patient with carnitine palmitoyltransferase II deficiency","volume":"19","author":"Deutsch","year":"2008","journal-title":"Eur J Intern Med"},{"issue":"9","key":"10.1016\/j.revmed.2026.02.008_bib0110","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1007\/s004310100802","article-title":"\u201cAdult\u201d form of muscular carnitine palmitoyltransferase II deficiency: manifestation in a 2-year-old child","volume":"160","author":"Gempel","year":"2001","journal-title":"Eur J Pediatr"},{"issue":"1\u20132","key":"10.1016\/j.revmed.2026.02.008_bib0115","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/j.jns.2013.12.026","article-title":"Carnitine palmitoyltransferase II (CPT II) deficiency: genotype\u2013phenotype analysis of 50 patients","volume":"338","author":"Joshi","year":"2014","journal-title":"J Neurol Sci"},{"issue":"1","key":"10.1016\/j.revmed.2026.02.008_bib0120","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1038\/clpt.2010.55","article-title":"Long-term follow-up of bezafibrate treatment in patients with the myopathic form of carnitine palmitoyltransferase 2 deficiency","volume":"88","author":"Bonnefont","year":"2010","journal-title":"Clin Pharmacol Ther"},{"issue":"6","key":"10.1016\/j.revmed.2026.02.008_bib0125","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1016\/j.braindev.2010.09.002","article-title":"Carnitine palmitoyl transferase II polymorphism is associated with multiple syndromes of acute encephalopathy with various infectious diseases","volume":"33","author":"Shinohara","year":"2011","journal-title":"Brain Dev"},{"key":"10.1016\/j.revmed.2026.02.008_bib0065","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1016\/j.jacl.2019.05.001","article-title":"Statin use in carnitine palmitoyltransferase II deficiency","volume":"13","author":"Saeed","year":"2019","journal-title":"J Clin Lipidol"}],"container-title":["La Revue de M\u00e9decine Interne"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S024886632600041X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S024886632600041X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T15:05:55Z","timestamp":1786633555000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S024886632600041X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8]]},"references-count":13,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2026,8]]}},"alternative-id":["S024886632600041X"],"URL":"https:\/\/doi.org\/10.1016\/j.revmed.2026.02.008","relation":{},"ISSN":["0248-8663"],"issn-type":[{"value":"0248-8663","type":"print"}],"subject":[],"published":{"date-parts":[[2026,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Un diagnostic tardif de d\u00e9ficit en CPT-2","name":"articletitle","label":"Article Title"},{"value":"La Revue de M\u00e9decine Interne","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.revmed.2026.02.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 Soci\u00e9t\u00e9 Nationale Fran\u00e7aise de M\u00e9decine Interne (SNFMI). Published by Elsevier Masson SAS. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}