{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T15:27:53Z","timestamp":1785511673484,"version":"3.56.0"},"reference-count":16,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","jocn-journal.com","clinicalkey.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Clinical Neuroscience"],"published-print":{"date-parts":[[2019,1]]},"DOI":"10.1016\/j.jocn.2018.11.023","type":"journal-article","created":{"date-parts":[[2018,11,16]],"date-time":"2018-11-16T23:39:50Z","timestamp":1542411590000},"page":"32-36","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":20,"special_numbering":"C","title":["Phenotype of carnitine palmitoyltransferase II (CPT II) deficiency: A questionnaire-based survey"],"prefix":"10.1016","volume":"59","author":[{"given":"Pushpa Raj","family":"Joshi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcus","family":"Deschauer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Zierz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jocn.2018.11.023_b0005","series-title":"Carnitine palmitoyltransferase deficiency","first-page":"1697","author":"DiMauro","year":"1986"},{"key":"10.1016\/j.jocn.2018.11.023_b0010","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1006\/mgme.1999.2938","article-title":"Carnitine palmitoyltransferase deficiencies","volume":"68","author":"Bonnefont","year":"1999","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jocn.2018.11.023_b0015","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/j.jns.2013.12.026","article-title":"Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients","volume":"338","author":"Joshi","year":"2014","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.jocn.2018.11.023_b0020","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1073\/pnas.88.2.661","article-title":"cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase","volume":"88","author":"Finocchiaro","year":"1991","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jocn.2018.11.023_b0025","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1172\/JCI115090","article-title":"Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies","volume":"87","author":"Demaugre","year":"1991","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jocn.2018.11.023_b0030","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.jns.2007.09.015","article-title":"Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency","volume":"266","author":"Corti","year":"2008","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.jocn.2018.11.023_b0035","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1126\/science.182.4115.929","article-title":"Muscle carnitine palmityltransferase deficiency and myoglobinuria","volume":"182","author":"DiMauro","year":"1973","journal-title":"Science"},{"key":"10.1016\/j.jocn.2018.11.023_b0040","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1001\/archneur.62.1.37","article-title":"Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects","volume":"62","author":"Deschauer","year":"2005","journal-title":"Arch Neurol"},{"key":"10.1016\/j.jocn.2018.11.023_b0045","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000000053","article-title":"Stabilization of the thermolabile variant S113L of carnitine palmitoyltransferase II","volume":"2","author":"Motlagh","year":"2016","journal-title":"Neurol Genet"},{"key":"10.1016\/j.jocn.2018.11.023_b0050","first-page":"258","article-title":"Cramps following exercise","volume":"24","author":"Bye","year":"1988","journal-title":"Aust Paediatr J"},{"key":"10.1016\/j.jocn.2018.11.023_b0055","doi-asserted-by":"crossref","first-page":"610","DOI":"10.7326\/0003-4819-88-5-610","article-title":"Recurrent myoglobinuria due to muscle carnitine palmityl transferase deficiency","volume":"88","author":"Reza","year":"1978","journal-title":"Ann Intern Med"},{"key":"10.1016\/j.jocn.2018.11.023_b0060","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1001\/jama.1987.03390010066030","article-title":"Partial muscle carnitine palmitoyltransferase-A deficiency. Rhabdomyolysis associated with transiently decreased muscle carnitine content after ibuprofen therapy","volume":"257","author":"Ross","year":"1987","journal-title":"JAMA"},{"key":"10.1016\/j.jocn.2018.11.023_b0065","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1172\/JCI116586","article-title":"Relationship between skeletal muscle lipoprotein lipase activity and 24-hour macronutrient oxidation","volume":"92","author":"Ferraro","year":"1993","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jocn.2018.11.023_b0070","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1111\/j.1365-2362.1993.tb00766.x","article-title":"Lipoprotein lipase activity in muscle tissue influenced by fatness, fat distribution and insulin in obese females","volume":"23","author":"Richelsen","year":"1993","journal-title":"Eur J Clin Invest"},{"key":"10.1016\/j.jocn.2018.11.023_b0075","series-title":"Camitine palmitoyltransferase deficiency","first-page":"1577","author":"Zierz","year":"1994"},{"key":"10.1016\/j.jocn.2018.11.023_b0080","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1002\/mus.880010203","article-title":"Biochemical and physiologic consequences of carnitine palmityltransferase deficiency","volume":"1","author":"Carroll","year":"1978","journal-title":"Muscle Nerve"}],"container-title":["Journal of Clinical Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0967586818312232?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0967586818312232?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,12,24]],"date-time":"2018-12-24T21:47:27Z","timestamp":1545688047000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0967586818312232"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1]]},"references-count":16,"alternative-id":["S0967586818312232"],"URL":"https:\/\/doi.org\/10.1016\/j.jocn.2018.11.023","relation":{},"ISSN":["0967-5868"],"issn-type":[{"value":"0967-5868","type":"print"}],"subject":[],"published":{"date-parts":[[2019,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Phenotype of carnitine palmitoyltransferase II (CPT II) deficiency: A questionnaire-based survey","name":"articletitle","label":"Article Title"},{"value":"Journal of Clinical Neuroscience","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jocn.2018.11.023","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}