{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T08:40:46Z","timestamp":1770453646208,"version":"3.49.0"},"reference-count":34,"publisher":"The Endocrine Society","issue":"12","funder":[{"DOI":"10.13039\/501100004954","name":"Augustinus Fonden","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004954","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006197","name":"Fonden til L\u00e6gevidenskabens Fremme","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006197","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005111","name":"Rigshospitalet","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005111","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,12,1]]},"DOI":"10.1210\/jc.2018-00953","type":"journal-article","created":{"date-parts":[[2018,9,13]],"date-time":"2018-09-13T14:28:11Z","timestamp":1536848891000},"page":"4580-4588","source":"Crossref","is-referenced-by-count":23,"title":["L-Carnitine Improves Skeletal Muscle Fat Oxidation in Primary Carnitine Deficiency"],"prefix":"10.1210","volume":"103","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0145-1084","authenticated-orcid":false,"given":"Karen Lindhardt","family":"Madsen","sequence":"first","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, Copenhagen, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9039-0692","authenticated-orcid":false,"given":"Nicolai","family":"Preisler","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, Copenhagen, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Rasmussen","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, The National Hospital of the Faroe Islands, T\u00f3rshavn, Faroe Islands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8853-0986","authenticated-orcid":false,"given":"Gitte","family":"Hedermann","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, Copenhagen, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jess Have","family":"Olesen","sequence":"additional","affiliation":[{"name":"Centre for Inherited Metabolic Diseases, Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allan Meldgaard","family":"Lund","sequence":"additional","affiliation":[{"name":"Centre for Inherited Metabolic Diseases, Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6144-8544","authenticated-orcid":false,"given":"John","family":"Vissing","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, Copenhagen, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2018,9,13]]},"reference":[{"issue":"1","key":"2019052106395684400_B1","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1038\/5030","article-title":"Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter","volume":"21","author":"Nezu","year":"1999","journal-title":"Nat Genet"},{"issue":"1","key":"2019052106395684400_B2","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1097\/GIM.0b013e3181c5e6f7","article-title":"Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects","volume":"12","author":"El-Hattab","year":"2010","journal-title":"Genet Med"},{"issue":"2","key":"2019052106395684400_B3","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1007\/s10545-013-9606-2","article-title":"Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands","volume":"37","author":"Rasmussen","year":"2014","journal-title":"J Inherit Metab Dis"},{"issue":"3","key":"2019052106395684400_B4","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1007\/BF01799385","article-title":"Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism","volume":"13","author":"Millington","year":"1990","journal-title":"J Inherit Metab Dis"},{"issue":"3","key":"2019052106395684400_B5","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/j.ymgme.2012.06.006","article-title":"Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening","volume":"107","author":"Lund","year":"2012","journal-title":"Mol Genet Metab"},{"issue":"6 Pt 1","key":"2019052106395684400_B6","doi-asserted-by":"crossref","first-page":"1399","DOI":"10.1542\/peds.111.6.1399","article-title":"Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications","volume":"111","author":"Schulze","year":"2003","journal-title":"Pediatrics"},{"issue":"3","key":"2019052106395684400_B7","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1203\/00006450-199009000-00020","article-title":"Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy","volume":"28","author":"Tein","year":"1990","journal-title":"Pediatr Res"},{"issue":"20","key":"2019052106395684400_B8","doi-asserted-by":"crossref","first-page":"1331","DOI":"10.1056\/NEJM198811173192006","article-title":"Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts","volume":"319","author":"Treem","year":"1988","journal-title":"N Engl J Med"},{"issue":"1","key":"2019052106395684400_B9","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1007\/s10545-012-9488-8","article-title":"Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events","volume":"36","author":"Rasmussen","year":"2013","journal-title":"J Inherit Metab Dis"},{"issue":"6","key":"2019052106395684400_B10","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1023\/A:1025968502527","article-title":"Silent and symptomatic primary carnitine deficiency within the same family due to identical mutations in the organic cation\/carnitine transporter OCTN2","volume":"26","author":"Spiekerkoetter","year":"2003","journal-title":"J Inherit Metab Dis"},{"issue":"1","key":"2019052106395684400_B11","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1196\/annals.1320.004","article-title":"Carnitine deficiency disorders in children","volume":"1033","author":"Stanley","year":"2004","journal-title":"Ann N Y Acad Sci"},{"issue":"5","key":"2019052106395684400_B12","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1007\/s10545-006-0376-y","article-title":"Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants","volume":"29","author":"Vijay","year":"2006","journal-title":"J Inherit Metab Dis"},{"issue":"3","key":"2019052106395684400_B13","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/j.ymgme.2015.09.004","article-title":"Disorders of carnitine biosynthesis and transport","volume":"116","author":"El-Hattab","year":"2015","journal-title":"Mol Genet Metab"},{"issue":"2","key":"2019052106395684400_B14","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1111\/cge.12112","article-title":"Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype","volume":"85","author":"Shibbani","year":"2014","journal-title":"Clin Genet"},{"issue":"7","key":"2019052106395684400_B15","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1056\/NEJM198108133050707","article-title":"Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: a treatable cardiomyopathy","volume":"305","author":"Tripp","year":"1981","journal-title":"N Engl J Med"},{"issue":"3","key":"2019052106395684400_B16","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/S1096-7192(02)00169-5","article-title":"Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency","volume":"77","author":"Cederbaum","year":"2002","journal-title":"Mol Genet Metab"},{"issue":"2","key":"2019052106395684400_B17","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1002\/ajmg.c.30087","article-title":"Disorders of carnitine transport and the carnitine cycle","volume":"142C","author":"Longo","year":"2006","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"4","key":"2019052106395684400_B18","doi-asserted-by":"crossref","first-page":"1667","DOI":"10.1210\/jc.2012-3791","article-title":"Patients with medium-chain acyl-coenzyme a dehydrogenase deficiency have impaired oxidation of fat during exercise but no effect of L-carnitine supplementation","volume":"98","author":"Madsen","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"issue":"9","key":"2019052106395684400_B19","doi-asserted-by":"crossref","first-page":"936","DOI":"10.1016\/0026-0495(81)90074-3","article-title":"Use of a heated superficial hand vein as an alternative site for the measurement of amino acid concentrations and for the study of glucose and alanine kinetics in man","volume":"30","author":"Abumrad","year":"1981","journal-title":"Metabolism"},{"issue":"5","key":"2019052106395684400_B20","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1002\/ana.410300512","article-title":"Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake","volume":"30","author":"Stanley","year":"1991","journal-title":"Ann Neurol"},{"issue":"11","key":"2019052106395684400_B21","doi-asserted-by":"crossref","first-page":"2375","DOI":"10.1093\/ajcn\/33.11.2375","article-title":"13C abundances of nutrients and the effect of variations in 13C isotopic abundances of test meals formulated for 13CO2 breath tests","volume":"33","author":"Schoeller","year":"1980","journal-title":"Am J Clin Nutr"},{"key":"2019052106395684400_B22","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1007\/8904_2014_398","article-title":"Carnitine levels in skeletal muscle, blood, and urine in patients with primary carnitine deficiency during intermission of L-carnitine supplementation","volume":"20","author":"Rasmussen","year":"2015","journal-title":"JIMD Rep"},{"issue":"1","key":"2019052106395684400_B23","first-page":"23","article-title":"Table of nonprotein respiratory quotient: an update","volume":"16","author":"P\u00e9ronnet","year":"1991","journal-title":"Can J Sport Sci"},{"issue":"2","key":"2019052106395684400_B24","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1111\/j.1749-6632.1959.tb44923.x","article-title":"Influences of glucose loading and of injected insulin on hepatic glucose output","volume":"82","author":"Steele","year":"1959","journal-title":"Ann N Y Acad Sci"},{"key":"2019052106395684400_B25","doi-asserted-by":"crossref","unstructured":"van Loon LJ , KoopmanR, SchrauwenP, StegenJ, WagenmakersAJ. The use of the [1,2-13C]acetate recovery factor in metabolic research. EurJApplPhysiol. 2003 May;89(1439-6319 (Print)):377\u201383.","DOI":"10.1007\/s00421-003-0810-x"},{"issue":"1","key":"2019052106395684400_B26","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1002\/ana.20320","article-title":"Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations","volume":"57","author":"\u00d8rngreen","year":"2005","journal-title":"Ann Neurol"},{"issue":"2","key":"2019052106395684400_B27","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1002\/ana.20168","article-title":"Fuel utilization in patients with very long-chain acyl-coa dehydrogenase deficiency","volume":"56","author":"\u00d8Rngreen","year":"2004","journal-title":"Ann Neurol"},{"issue":"4","key":"2019052106395684400_B28","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1001\/archneurol.2011.631","article-title":"Blocked muscle fat oxidation during exercise in neutral lipid storage disease","volume":"69","author":"Lafor\u00eat","year":"2012","journal-title":"Arch Neurol"},{"issue":"3","key":"2019052106395684400_B29","doi-asserted-by":"crossref","first-page":"211","DOI":"10.2174\/1389201033489829","article-title":"Carnitine metabolism and deficit--when supplementation is necessary","volume":"4","author":"Evangeliou","year":"2003","journal-title":"Curr Pharm Biotechnol"},{"key":"2019052106395684400_B30","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/j.ymgmr.2014.04.008","article-title":"Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency","volume":"1","author":"Rasmussen","year":"2014","journal-title":"Mol Genet Metab Rep"},{"issue":"1-2","key":"2019052106395684400_B31","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/S0009-8981(01)00804-X","article-title":"Long-term administration of L-carnitine to humans: effect on skeletal muscle carnitine content and physical performance","volume":"318","author":"W\u00e4chter","year":"2002","journal-title":"Clin Chim Acta"},{"issue":"3","key":"2019052106395684400_B32","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1123\/ijsn.4.3.280","article-title":"Effect of L-carnitine supplementation on muscle and blood carnitine content and lactate accumulation during high-intensity sprint cycling","volume":"4","author":"Barnett","year":"1994","journal-title":"Int J Sport Nutr"},{"issue":"2-3","key":"2019052106395684400_B33","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1023\/A:1024485117095","article-title":"L-carnitine in inborn errors of metabolism: what is the evidence","volume":"26","author":"Walter","year":"2003","journal-title":"J Inherit Metab Dis"},{"issue":"1","key":"2019052106395684400_B34","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1743-7075-7-30","article-title":"Role of carnitine in disease","volume":"7","author":"Flanagan","year":"2010","journal-title":"Nutr Metab (Lond)"}],"container-title":["The Journal of Clinical Endocrinology & Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/103\/12\/4580\/28678780\/jc.2018-00953.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,10,24]],"date-time":"2019-10-24T01:29:53Z","timestamp":1571880593000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/103\/12\/4580\/5095443"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,9,13]]},"references-count":34,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2018,9,13]]},"published-print":{"date-parts":[[2018,12,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jc.2018-00953","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2018,12]]},"published":{"date-parts":[[2018,9,13]]}}}