{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:02:12Z","timestamp":1762002132511,"version":"build-2065373602"},"reference-count":42,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,4,16]],"date-time":"2022-04-16T00:00:00Z","timestamp":1650067200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism Reports"],"published-print":{"date-parts":[[2022,6]]},"DOI":"10.1016\/j.ymgmr.2022.100873","type":"journal-article","created":{"date-parts":[[2022,5,4]],"date-time":"2022-05-04T18:45:19Z","timestamp":1651689919000},"page":"100873","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"special_numbering":"C","title":["Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography"],"prefix":"10.1016","volume":"31","author":[{"given":"Annemarijne R.J.","family":"Veenvliet","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark R.","family":"Garrelfs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Floris E.A.","family":"Udink ten Cate","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sacha","family":"Ferdinandusse","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simone","family":"Denis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabine A.","family":"Fuchs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marit","family":"Schwantje","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosa","family":"Geurtzen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annemiek M.J.","family":"van Wegberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marleen C.D.G.","family":"Huigen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leo A.J.","family":"Kluijtmans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ronald J.A.","family":"Wanders","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Terry G.J.","family":"Derks","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lonneke","family":"de Boer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Riekelt H.","family":"Houtkooper","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maaike C.","family":"de Vries","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clara D.M.","family":"van Karnebeek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.ymgmr.2022.100873_bb0005","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1007\/s11154-018-9448-1","article-title":"Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle","volume":"19","author":"Knottnerus","year":"2018","journal-title":"Rev. Endocr. Metab. Disord."},{"issue":"3","key":"10.1016\/j.ymgmr.2022.100873_bb0010","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1373\/clinchem.2005.062000","article-title":"Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene","volume":"52","author":"Das","year":"2006","journal-title":"Clin. Chem."},{"issue":"2","key":"10.1016\/j.ymgmr.2022.100873_bb0015","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1016\/j.ymgme.2005.02.002","article-title":"Neonatal screening for defects of the mitochondrial trifunctional protein","volume":"85","author":"Sander","year":"2005","journal-title":"Mol. Genet. Metab."},{"issue":"6","key":"10.1016\/j.ymgmr.2022.100873_bb0020","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1038\/nrd2060","article-title":"Therapeutic potential of resveratrol: the in vivo evidence","volume":"5","author":"Baur","year":"2006","journal-title":"Nat. Rev. Drug Discov."},{"issue":"4","key":"10.1016\/j.ymgmr.2022.100873_bb0025","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1007\/s10545-016-9939-8","article-title":"Sirtuin activation as a therapeutic approach against inborn errors of metabolism","volume":"39","author":"Bleeker","year":"2016","journal-title":"J. Inherit. Metab. Dis."},{"issue":"5","key":"10.1016\/j.ymgmr.2022.100873_bb0030","doi-asserted-by":"crossref","first-page":"254","DOI":"10.3390\/nu8050254","article-title":"Resveratrol and myopathy","volume":"8","author":"Bastin","year":"2016","journal-title":"Nutrients"},{"issue":"8","key":"10.1016\/j.ymgmr.2022.100873_bb0035","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1161\/CIRCULATIONAHA.115.017355","article-title":"The failing heart relies on ketone bodies as a fuel","volume":"133","author":"Aubert","year":"2016","journal-title":"Circulation"},{"issue":"12","key":"10.1016\/j.ymgmr.2022.100873_bb0040","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCHEARTFAILURE.118.004953","article-title":"Increased cardiac uptake of ketone bodies and free fatty acids in human heart failure and hypertrophic left ventricular remodeling","volume":"11","author":"Voros","year":"2018","journal-title":"Circ. Heart Fail."},{"issue":"3","key":"10.1016\/j.ymgmr.2022.100873_bb0045","doi-asserted-by":"crossref","DOI":"10.1161\/JAHA.116.005066","article-title":"Ketone body infusion with 3-hydroxybutyrate reduces myocardial glucose uptake and increases blood flow in humans: a positron emission tomography study","volume":"6","author":"Gormsen","year":"2017","journal-title":"J. Am. Heart Assoc."},{"issue":"9367","key":"10.1016\/j.ymgmr.2022.100873_bb0050","doi-asserted-by":"crossref","first-page":"1433","DOI":"10.1016\/S0140-6736(03)13105-4","article-title":"D, L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD)","volume":"361","author":"Van Hove","year":"2003","journal-title":"Lancet"},{"key":"10.1016\/j.ymgmr.2022.100873_bb0055","article-title":"Ketone body therapy with D\/L-\u03b2-hydroxybutyric acid solution in severe MADD","volume":"20","author":"Fischer","year":"2019","journal-title":"Mol. Genet. Metabol. Rep."},{"issue":"6","key":"10.1016\/j.ymgmr.2022.100873_bb0060","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1203\/PDR.0b013e318232154f","article-title":"Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D, L-3-hydroxybutyrate, ketogenic and high-protein diet","volume":"70","author":"Valayannopoulos","year":"2011","journal-title":"Pediatr. Res."},{"issue":"5","key":"10.1016\/j.ymgmr.2022.100873_bb0065","doi-asserted-by":"crossref","first-page":"908","DOI":"10.1038\/s41436-019-0739-z","article-title":"Efficacy and safety of D, L-3-hydroxybutyrate (D, L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency","volume":"22","author":"van Rijt","year":"2020","journal-title":"Genet. Med."},{"issue":"4","key":"10.1016\/j.ymgmr.2022.100873_bb0070","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1002\/jimd.12217","article-title":"Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency","volume":"43","author":"Bleeker","year":"2020","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgmr.2022.100873_bb0075","series-title":"Current Views of Fatty Acid Oxidation and Ketogenesis","first-page":"327","article-title":"Rapid diagnosis of organic acidemias and fatty-acid oxidation defects by quantitative electrospray tandem-MS acyl-carnitine analysis in plasma","author":"Vreken","year":"2002"},{"issue":"12","key":"10.1016\/j.ymgmr.2022.100873_bb0080","doi-asserted-by":"crossref","first-page":"989","DOI":"10.1038\/gim.2015.22","article-title":"Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency","volume":"17","author":"Diekman","year":"2015","journal-title":"Genet. Med."},{"issue":"12","key":"10.1016\/j.ymgmr.2022.100873_bb0085","doi-asserted-by":"crossref","first-page":"2591","DOI":"10.1007\/s00467-019-04330-7","article-title":"Subclinical myocardial disease in patients with primary hyperoxaluria and preserved left ventricular ejection fraction: a two-dimensional speckle-tracking imaging study","volume":"34","author":"Lagies","year":"2019","journal-title":"Pediatr. Nephrol."},{"issue":"4","key":"10.1016\/j.ymgmr.2022.100873_bb0090","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1007\/s10545-009-1126-8","article-title":"Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop","volume":"32","author":"Spiekerkoetter","year":"2009","journal-title":"J. Inherit. Metabol. Dis.: Off. J. Soc. Study Inborn Errors Metabol."},{"issue":"1","key":"10.1016\/j.ymgmr.2022.100873_bb0095","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1002\/jimd.12038","article-title":"Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD)","volume":"42","author":"Vockley","year":"2019","journal-title":"J. Inherit. Metab. Dis."},{"issue":"4","key":"10.1016\/j.ymgmr.2022.100873_bb0100","doi-asserted-by":"crossref","first-page":"e45","DOI":"10.1161\/CIRCHEARTFAILURE.113.000432","article-title":"Apical Sparing of Longitudinal Strain, Left Ventricular Rotational Abnormalities, and Short-Axis Dysfunctionin Primary Hyperoxaluria Type 1","volume":"6","author":"Lagies","year":"2013","journal-title":"Circ. Heart Fail."},{"issue":"5","key":"10.1016\/j.ymgmr.2022.100873_bb0105","first-page":"979","article-title":"Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha-and beta-subunits","volume":"58","author":"Ushikubo","year":"1996","journal-title":"Am. J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.ymgmr.2022.100873_bb0110","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1006\/geno.1996.0533","article-title":"The genes for the \u03b1 and \u03b2 subunits of the mitochondrial trifunctional protein are both located in the same region of human chromosome 2p23","volume":"37","author":"Yang","year":"1996","journal-title":"Genomics"},{"key":"10.1016\/j.ymgmr.2022.100873_bb0115","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.mcp.2019.01.003","article-title":"HADHA and HADHB gene associated phenotypes-identification of rare variants in a patient cohort by next generation sequencing","volume":"44","author":"Diebold","year":"2019","journal-title":"Mol. Cell. Probes"},{"issue":"5","key":"10.1016\/j.ymgmr.2022.100873_bb0120","doi-asserted-by":"crossref","first-page":"878","DOI":"10.1002\/jimd.12147","article-title":"Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study","volume":"42","author":"van Rijt","year":"2019","journal-title":"J. Inherit. Metab. Dis."},{"issue":"4","key":"10.1016\/j.ymgmr.2022.100873_bb0125","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1007\/s10545-005-0533-8","article-title":"Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency","volume":"28","author":"Olpin","year":"2005","journal-title":"J. Inherit. Metab. Dis."},{"issue":"1","key":"10.1016\/j.ymgmr.2022.100873_bb0130","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1542\/peds.109.1.99","article-title":"Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients","volume":"109","author":"den Boer","year":"2002","journal-title":"Pediatrics"},{"issue":"6","key":"10.1016\/j.ymgmr.2022.100873_bb0135","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1067\/mpd.2003.231","article-title":"Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement","volume":"142","author":"den Boer","year":"2003","journal-title":"J. Pediatr."},{"issue":"1","key":"10.1016\/j.ymgmr.2022.100873_bb0140","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ymgme.2021.03.010","article-title":"MTP deficiency caused by HADHB mutations: Pathophysiology and clinical manifestations","volume":"133","author":"Dagher","year":"2021","journal-title":"Mol. Genet. Metab."},{"issue":"4","key":"10.1016\/j.ymgmr.2022.100873_bb0145","first-page":"399","article-title":"Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency","volume":"39","author":"Park","year":"2009","journal-title":"Ann. Clin. Lab. Sci."},{"issue":"10","key":"10.1016\/j.ymgmr.2022.100873_bb0150","doi-asserted-by":"crossref","first-page":"2048","DOI":"10.1093\/hmg\/ddr089","article-title":"Exposure to resveratrol triggers pharmacological correction of fatty acid utilization in human fatty acid oxidation-deficient fibroblasts","volume":"20","author":"Bastin","year":"2011","journal-title":"Hum. Mol. Genet."},{"issue":"21","key":"10.1016\/j.ymgmr.2022.100873_bb0155","doi-asserted-by":"crossref","first-page":"4242","DOI":"10.1111\/febs.13418","article-title":"De novo fatty acid biosynthesis and elongation in very long-chain acyl-CoA dehydrogenase-deficient mice supplemented with odd or even medium-chain fatty acids","volume":"282","author":"Tucci","year":"2015","journal-title":"FEBS J."},{"issue":"1","key":"10.1016\/j.ymgmr.2022.100873_bb0160","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/j.bbrc.2006.05.107","article-title":"Medium-chain fatty acids undergo elongation before \u03b2-oxidation in fibroblasts","volume":"346","author":"Jones","year":"2006","journal-title":"Biochem. Biophys. Res. Commun."},{"issue":"3","key":"10.1016\/j.ymgmr.2022.100873_bb0165","doi-asserted-by":"crossref","first-page":"1396","DOI":"10.1016\/j.clnu.2020.08.032","article-title":"Exploring the metabolic fate of medium-chain triglycerides in healthy individuals using a stable isotope tracer","volume":"40","author":"Knottnerus","year":"2021","journal-title":"Clin. Nutr."},{"key":"10.1016\/j.ymgmr.2022.100873_bb0170","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1002\/jimd.12365","article-title":"Enantiomer-specific pharmacokinetics of D, L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiency","volume":"44 (4)","author":"van Rijt","year":"2021","journal-title":"J. Inherit. Metab. Dis."},{"issue":"1","key":"10.1016\/j.ymgmr.2022.100873_bb0175","first-page":"1","article-title":"The use of sodium DL-3-Hydroxybutyrate in severe acute neuro-metabolic compromise in patients with inherited ketone body synthetic disorders","volume":"15","author":"Bhattacharya","year":"2020","journal-title":"Orphan. J. Rare Dis."},{"issue":"6","key":"10.1016\/j.ymgmr.2022.100873_bb0180","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1203\/01.PDR.0000161413.42874.74","article-title":"Long-chain fatty acid oxidation during early human development","volume":"57","author":"Oey","year":"2005","journal-title":"Pediatr. Res."},{"issue":"4","key":"10.1016\/j.ymgmr.2022.100873_bb0185","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1046\/j.1440-1681.2002.03655.x","article-title":"Transcriptional activation of energy metabolic switches in the developing and hypertrophied heart","volume":"29","author":"Lehman","year":"2002","journal-title":"Clin. Exp. Pharmacol. Physiol."},{"issue":"4","key":"10.1016\/j.ymgmr.2022.100873_bb0190","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1016\/j.ymgme.2008.04.002","article-title":"Intrauterine cardiomyopathy and cardiac mitochondrial proliferation in mitochondrial trifunctional protein (TFP) deficiency","volume":"94","author":"Spiekerkoetter","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgmr.2022.100873_bb0195","series-title":"JIMD Reports","first-page":"91","article-title":"Mitochondrial trifunctional protein deficiency: severe cardiomyopathy and cardiac transplantation","volume":"Vol. 40","author":"Bursle","year":"2017"},{"issue":"19","key":"10.1016\/j.ymgmr.2022.100873_bb0200","doi-asserted-by":"crossref","first-page":"1442","DOI":"10.1136\/heartjnl-2012-302353","article-title":"Relative apical sparing of longitudinal strain using two-dimensional speckle-tracking echocardiography is both sensitive and specific for the diagnosis of cardiac amyloidosis","volume":"98","author":"Phelan","year":"2012","journal-title":"Heart"},{"issue":"10","key":"10.1016\/j.ymgmr.2022.100873_bb0205","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1136\/heartjnl-2015-308657","article-title":"Prognostic implication of relative regional strain ratio in cardiac amyloidosis","volume":"102","author":"Senapati","year":"2016","journal-title":"Heart"},{"issue":"11","key":"10.1016\/j.ymgmr.2022.100873_bb0210","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1212\/WNL.0000000000011597","article-title":"Systematic review of N-of-1 studies in rare genetic neurodevelopmental disorders: the power of 1","volume":"96","author":"M\u00fcller","year":"2021","journal-title":"Neurology"}],"container-title":["Molecular Genetics and Metabolism Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426922000337?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426922000337?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T12:53:37Z","timestamp":1762001617000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2214426922000337"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6]]},"references-count":42,"alternative-id":["S2214426922000337"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgmr.2022.100873","relation":{},"ISSN":["2214-4269"],"issn-type":[{"type":"print","value":"2214-4269"}],"subject":[],"published":{"date-parts":[[2022,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgmr.2022.100873","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"100873"}}