{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,20]],"date-time":"2025-07-20T03:54:56Z","timestamp":1752983696727,"version":"3.40.3"},"publisher-location":"Berlin, Heidelberg","reference-count":15,"publisher":"Springer Berlin Heidelberg","isbn-type":[{"type":"print","value":"9783662575765"},{"type":"electronic","value":"9783662575772"}],"license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017]]},"DOI":"10.1007\/8904_2017_36","type":"book-chapter","created":{"date-parts":[[2017,7,8]],"date-time":"2017-07-08T02:03:31Z","timestamp":1499479411000},"page":"19-23","source":"Crossref","is-referenced-by-count":16,"title":["Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency"],"prefix":"10.1007","author":[{"given":"Sidharth","family":"Mahapatra","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amitha","family":"Ananth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy","family":"Baugh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mihaela","family":"Damian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gregory M.","family":"Enns","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2017,7,9]]},"reference":[{"key":"36_CR1","doi-asserted-by":"publisher","first-page":"2248","DOI":"10.1161\/01.CIR.100.22.2248","volume":"100","author":"D Bonnet","year":"1999","unstructured":"Bonnet D, Martin D, Pascale De L, Villain E, Jouvet P, Rabier D, Brivet M, Saudubray JM (1999) Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children. Circulation 100:2248\u20132253","journal-title":"Circulation"},{"key":"36_CR2","doi-asserted-by":"publisher","first-page":"3049","DOI":"10.1002\/ajmg.a.36156","volume":"161a","author":"K Eto","year":"2013","unstructured":"Eto K, Sakai N, Shimada S, Shioda M, Ishigaki K, Hamada Y, Shinpo M, Azuma J, Tominaga K, Shimojima K, Ozono K, Osawa M, Yamamoto T (2013) Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement. Am J Med Genet A 161a:3049\u20133056","journal-title":"Am J Med Genet A"},{"key":"36_CR3","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1016\/j.ejmg.2008.11.005","volume":"52","author":"CR Haldeman-Englert","year":"2009","unstructured":"Haldeman-Englert CR, Gai X, Perin JC, Ciano M, Halbach SS, Geiger EA, McDonald-McGinn DM, Hakonarson H, Zackai EH, Shaikh TH (2009) A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay. Eur J Med Genet 52:265\u2013268","journal-title":"Eur J Med Genet"},{"key":"36_CR4","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1006\/mgme.2001.3235","volume":"74","author":"BY Hsu","year":"2001","unstructured":"Hsu BY, Iacobazzi V, Wang Z, Harvie H, Chalmers RA, Saudubray JM, Palmieri F, Ganguly A, Stanley CA (2001) Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency. Mol Genet Metab 74:248\u2013255","journal-title":"Mol Genet Metab"},{"key":"36_CR6","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1016\/0925-4439(94)90037-X","volume":"1226","author":"SV Pande","year":"1994","unstructured":"Pande SV, Murthy MS (1994) Carnitine-acylcarnitine translocase deficiency: implications in human pathology. Biochim Biophys Acta 1226:269\u2013276","journal-title":"Biochim Biophys Acta"},{"key":"36_CR7","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1016\/j.ymgme.2015.10.005","volume":"116","author":"CR Roe","year":"2015","unstructured":"Roe CR, Brunengraber H (2015) Anaplerotic treatment of long-chain fat oxidation disorders with triheptanoin: review of 15 years experience. Mol Genet Metab 116:260\u2013268","journal-title":"Mol Genet Metab"},{"key":"36_CR8","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1007\/s10545-006-0290-3","volume":"29","author":"CR Roe","year":"2006","unstructured":"Roe CR, Mochel F (2006) Anaplerotic diet therapy in inherited metabolic disease: therapeutic potential. J Inherit Metab Dis 29:332\u2013340","journal-title":"J Inherit Metab Dis"},{"key":"36_CR9","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1172\/JCI0215311","volume":"110","author":"CR Roe","year":"2002","unstructured":"Roe CR, Sweetman L, Roe DS, David F, Brunengraber H (2002) Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride. J Clin Invest 110:259\u2013269","journal-title":"J Clin Invest"},{"key":"36_CR10","doi-asserted-by":"publisher","first-page":"521","DOI":"10.1016\/j.mam.2004.06.007","volume":"25","author":"ME Rubio-Gozalbo","year":"2004","unstructured":"Rubio-Gozalbo ME, Bakker JA, Waterham HR, Wanders RJ (2004) Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects. Mol Asp Med 25:521\u2013532","journal-title":"Mol Asp Med"},{"key":"36_CR11","doi-asserted-by":"publisher","first-page":"488","DOI":"10.1007\/s10545-009-1125-9","volume":"32","author":"U Spiekerkoetter","year":"2009","unstructured":"Spiekerkoetter U, Lindner M, Santer R, Grotzke M, Baumgartner MR, Boehles H, Das A, Haase C, Hennermann JB, Karall D, de Klerk H, Knerr I, Koch HG, Plecko B, Roschinger W, Schwab KO, Scheible D, Wijburg FA, Zschocke J, Mayatepek E, Wendel U (2009) Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop. J Inherit Metab Dis 32:488\u2013497","journal-title":"J Inherit Metab Dis"},{"key":"36_CR12","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1056\/NEJM199207023270104","volume":"327","author":"CA Stanley","year":"1992","unstructured":"Stanley CA, Hale DE, Berry GT, Deleeuw S, Boxer J, Bonnefont JP (1992) Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane. N Engl J Med 327:19\u201323","journal-title":"N Engl J Med"},{"key":"36_CR13","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1007\/8904_2014_382","volume":"20","author":"I Vitoria","year":"2015","unstructured":"Vitoria I, Martin-Hernandez E, Pena-Quintana L, Bueno M, Quijada-Fraile P, Dalmau J, Molina-Marrero S, Perez B, Merinero B (2015) Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature. JIMD Rep 20:11\u201320","journal-title":"JIMD Rep"},{"key":"36_CR14","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1016\/j.ymgme.2015.06.006","volume":"116","author":"J Vockley","year":"2015","unstructured":"Vockley J, Marsden D, McCracken E, DeWard S, Barone A, Hsu K, Kakkis E (2015) Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment \u2013 a retrospective chart review. Mol Genet Metab 116:53\u201360","journal-title":"Mol Genet Metab"},{"key":"36_CR15","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1016\/j.ymgme.2016.08.008","volume":"119","author":"J Vockley","year":"2016","unstructured":"Vockley J, Charrow J, Ganesh J, Eswara M, Diaz GA, McCracken E, Conway R, Enns GM, Starr J, Wang R, Abdenur JE, Sanchez-de-Toledo J, Marsden DL (2016) Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders. Mol Genet Metab 119:223\u2013231","journal-title":"Mol Genet Metab"},{"issue":"4","key":"36_CR16","doi-asserted-by":"publisher","first-page":"370","DOI":"10.1016\/j.ymgme.2017.02.005","volume":"120","author":"J Vockley","year":"2017","unstructured":"Vockley J, Burton B, Berry GT, Longo N, Phillips J, Sanchez-Valle A, Tanpaiboon P, Grunewald S, Murphy E, Humphrey R, Mayhew J, Bowden A, Zhang L, Cataldo J, Marsden DL, Kakkis E (2017) UX007 for the treatment of long chain-fatty acid oxidation disorders: safety and efficacy in children and adults following 24 weeks of treatment. Mol Genet Metab 120(4):370\u2013377","journal-title":"Mol Genet Metab"}],"container-title":["JIMD Reports","JIMD Reports, Volume 39"],"original-title":[],"link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/8904_2017_36","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,10]],"date-time":"2019-05-10T10:58:15Z","timestamp":1557485895000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/8904_2017_36"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"ISBN":["9783662575765","9783662575772"],"references-count":15,"URL":"https:\/\/doi.org\/10.1007\/8904_2017_36","relation":{},"ISSN":["2192-8304","2192-8312"],"issn-type":[{"type":"print","value":"2192-8304"},{"type":"electronic","value":"2192-8312"}],"subject":[],"published":{"date-parts":[[2017]]}}}