{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,16]],"date-time":"2025-09-16T17:30:46Z","timestamp":1758043846202,"version":"3.44.0"},"reference-count":69,"publisher":"Elsevier","isbn-type":[{"type":"print","value":"9780128119075"}],"license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020]]},"DOI":"10.1016\/b978-0-12-811907-5.00011-7","type":"book-chapter","created":{"date-parts":[[2019,8,30]],"date-time":"2019-08-30T14:09:16Z","timestamp":1567174156000},"page":"225-244","source":"Crossref","is-referenced-by-count":5,"title":["Riboflavin (vitamin B2) and mitochondrial energy"],"prefix":"10.1016","author":[{"given":"B\u00e1rbara J.","family":"Henriques","sequence":"first","affiliation":[]},{"given":"Cl\u00e1udio M.","family":"Gomes","sequence":"additional","affiliation":[]}],"member":"78","reference":[{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib1","doi-asserted-by":"crossref","first-page":"1284","DOI":"10.1016\/j.bbadis.2012.05.003","article-title":"Mutations at the flavin binding site of ETF:QO yield a MADD-like severe phenotype in drosophila","volume":"1822","author":"Alves","year":"2012","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib2","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1111\/j.1468-1331.2006.01482.x","article-title":"Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders","volume":"13","author":"Angelini","year":"2006","journal-title":"Eur. J. Neurol."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib3","doi-asserted-by":"crossref","first-page":"2649","DOI":"10.2174\/1381612811319140014","article-title":"Biosynthesis of flavin cofactors in man: implications in health and disease","volume":"19","author":"Barile","year":"2013","journal-title":"Curr. Pharm. Des."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib4","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/0022-510X(93)90108-B","article-title":"Treatment of complex I deficiency with riboflavin","volume":"118","author":"Bernsen","year":"1993","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib5","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1007\/s10545-010-9242-z","article-title":"Brown\u2013Vialetto\u2013Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment","volume":"34","author":"Bosch","year":"2011","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib6","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/s10545-016-9999-9","article-title":"Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision","volume":"40","author":"Boy","year":"2017","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib7","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1016\/S0022-3476(79)80048-7","article-title":"Treatment of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria). Experience with diet, riboflavin, and GABA analogue","volume":"94","author":"Brandt","year":"1979","journal-title":"J Pediatr."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib8","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1016\/j.bbabio.2010.01.004","article-title":"Mitochondrial energy metabolism and ageing","volume":"1797","author":"Bratic","year":"2010","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib9","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1016\/j.braindev.2006.04.001","article-title":"Effects of riboflavin in children with complex II deficiency","volume":"28","author":"Bugiani","year":"2006","journal-title":"Brain Dev."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib10","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.ymgme.2005.11.007","article-title":"Riboflavin-responsive glutaryl CoA dehydrogenase deficiency","volume":"88","author":"Chalmers","year":"2006","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib11","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/j.ymgme.2007.06.017","article-title":"Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency","volume":"92","author":"Chiong","year":"2007","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib12","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1016\/j.sbi.2006.10.003","article-title":"New frontiers in structural flavoenzymology","volume":"16","author":"De Colibus","year":"2006","journal-title":"Curr. Opin. Struct. Biol."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib13","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.cbi.2006.04.014","article-title":"Mitochondrial function and toxicity: role of the B vitamin family on mitochondrial energy metabolism","volume":"163","author":"Depeint","year":"2006","journal-title":"Chem. Biol. Interact."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib14","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1007\/BF01801769","article-title":"Glutaric aciduria type I presenting with hypoglycaemia","volume":"7","author":"Dunger","year":"1984","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib15","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1203\/00006450-199201000-00007","article-title":"Diagnosis of medium-chain acyl-CoA dehydrogenase deficiency in lymphocytes and liver by a gas chromatographic method: the effect of oral riboflavin supplementation","volume":"31","author":"Duran","year":"1992","journal-title":"Pediatr. Res."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib16","first-page":"15","article-title":"Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency","volume":"16","author":"Fan","year":"2018","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib17","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1093\/brain\/awt315","article-title":"Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2","volume":"137","author":"Foley","year":"2014","journal-title":"Brain"},{"year":"1998","series-title":"Dietary Reference Intakes for Thiamin, Riboflavin, Niacin, Vitamin B6, Folate, Vitamin B12, Pantothenic Acid, Biotin, and Choline","author":"Food and Nutrition Board Washington, D.C","key":"10.1016\/B978-0-12-811907-5.00011-7_bib18"},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib19","doi-asserted-by":"crossref","first-page":"1177","DOI":"10.1001\/jamaneurol.2013.3197","article-title":"Mitochondrial encephalomyopathy due to a novel mutation in ACAD9","volume":"70","author":"Garone","year":"2013","journal-title":"JAMA Neurol."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib20","doi-asserted-by":"crossref","first-page":"2037","DOI":"10.1093\/brain\/awm054","article-title":"The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene","volume":"130","author":"Gempel","year":"2007","journal-title":"Brain"},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib21","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1093\/brain\/awq273","article-title":"Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene","volume":"134","author":"Gerards","year":"2011","journal-title":"Brain"},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib22","doi-asserted-by":"crossref","first-page":"1182","DOI":"10.1002\/elps.200500687","article-title":"Coordinated and reversible reduction of enzymes involved in terminal oxidative metabolism in skeletal muscle mitochondria from a riboflavin-responsive, multiple acyl-CoA dehydrogenase deficiency patient","volume":"27","author":"Gianazza","year":"2006","journal-title":"Electrophoresis"},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib23","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1186\/s12920-018-0356-8","article-title":"Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report","volume":"11","author":"Goh","year":"2018","journal-title":"BMC. Med. Genomics."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib24","doi-asserted-by":"crossref","first-page":"2460","DOI":"10.2174\/1568026611212220002","article-title":"Protein misfolding in disease and small molecule therapies","volume":"12","author":"Gomes","year":"2012","journal-title":"Curr. Top. Med. Chem."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib25","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1203\/00006450-198210000-00012","article-title":"C6-C10-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects","volume":"16","author":"Gregersen","year":"1982","journal-title":"Pediatr. Res."},{"year":"1999","series-title":"Food Chemistry","author":"Grosch","key":"10.1016\/B978-0-12-811907-5.00011-7_bib26"},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib27","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1186\/s13023-014-0117-5","article-title":"Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency","volume":"9","author":"Grunert","year":"2014","journal-title":"Orphanet. J. Rare Dis."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib28","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1016\/S0022-3476(83)80410-7","article-title":"Multiple acyl-CoA dehydrogenase deficiency occurring in pregnancy and caused by a defect in riboflavin metabolism in the mother. Study of a kindred with seven deaths in infancy: value of riboflavin therapy in preventing this syndrome","volume":"103","author":"Harpey","year":"1983","journal-title":"J. Pediatr."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib29","doi-asserted-by":"crossref","first-page":"4222","DOI":"10.1074\/jbc.M805719200","article-title":"Role of flavinylation in a mild variant of multiple acyl-CoA dehydrogenation deficiency: a molecular rationale for the effects of riboflavin supplementation","volume":"284","author":"Henriques","year":"2009","journal-title":"J. Biol. Chem."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib30","doi-asserted-by":"crossref","first-page":"3842","DOI":"10.2174\/092986710793205462","article-title":"Emerging roles for riboflavin in functional rescue of mitochondrial beta-oxidation flavoenzymes","volume":"17","author":"Henriques","year":"2010","journal-title":"Curr. Med. Chem."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib31","doi-asserted-by":"crossref","first-page":"1070","DOI":"10.1016\/j.bbadis.2010.07.015","article-title":"Mutational hotspots in electron transfer flavoprotein underlie defective folding and function in multiple acyl-CoA dehydrogenase deficiency","volume":"1802","author":"Henriques","year":"2010","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib32","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1016\/j.febslet.2011.01.002","article-title":"A polymorphic position in electron transfer flavoprotein modulates kinetic stability as evidenced by thermal stress","volume":"585","author":"Henriques","year":"2011","journal-title":"FEBS Lett."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib33","doi-asserted-by":"crossref","first-page":"1527","DOI":"10.2174\/1389450117666160813180812","article-title":"Therapeutic approaches using riboflavin in mitochondrial energy metabolism disorders","volume":"17","author":"Henriques","year":"2016","journal-title":"Curr. Drug Targets"},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib34","doi-asserted-by":"crossref","first-page":"4164","DOI":"10.1016\/S0021-9258(18)50710-9","article-title":"Riboflavin and rat hepatic cell structure and function. mitochondrial oxidative metabolism in deficiency states","volume":"254","author":"Hoppel","year":"1979","journal-title":"J. Biol. Chem."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib35","doi-asserted-by":"crossref","first-page":"1571","DOI":"10.1093\/clinchem\/48.9.1571","article-title":"Riboflavin, flavin mononucleotide, and flavin adenine dinucleotide in human plasma and erythrocytes at baseline and after low-dose riboflavin supplementation","volume":"48","author":"Hustad","year":"2002","journal-title":"Clin. Chem."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib36","series-title":"Mitochondrial Medicine: Mitochondrial Metabolism, Diseases, Diagnosis and Therapy","first-page":"367","article-title":"Vitamins in mitochondrial function","author":"Kucharsk\u00e1","year":"2008"},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib37","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1016\/j.jns.2011.05.001","article-title":"Multiple acyl-CoA-dehydrogenase deficiency (MADD)\u2014a novel mutation of electron-transferring-flavoprotein dehydrogenase ETFDH","volume":"307","author":"Lammer","year":"2011","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib38","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1111\/j.1399-0004.2010.01421.x","article-title":"High frequency of ETFDH c.250G>A mutation in taiwanese patients with late-onset lipid storage myopathy","volume":"78","author":"Lan","year":"2010","journal-title":"Clin. Genet."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib39","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/j.cca.2009.02.015","article-title":"Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency","volume":"404","author":"Law","year":"2009","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib40","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1016\/j.nmd.2009.01.008","article-title":"ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency","volume":"19","author":"Liang","year":"2009","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib41","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/S0022-3476(88)80123-9","article-title":"A case of glutaric acidemia type I: effect of riboflavin and carnitine","volume":"112","author":"Lipkin","year":"1988","journal-title":"J. Pediatr."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib42","doi-asserted-by":"crossref","first-page":"1658","DOI":"10.1016\/j.bbadis.2011.09.009","article-title":"Cofactors and metabolites as potential stabilizers of mitochondrial acyl-CoA dehydrogenases","volume":"1812","author":"Lucas","year":"2011","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib43","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1146\/annurev.nu.01.070181.001433","article-title":"Formation and mode of action of flavoproteins","volume":"1","author":"Merrill","year":"1981","journal-title":"Annu. Rev. Nutr."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib44","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1186\/s12944-018-0903-5","article-title":"Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency","volume":"17","author":"Missaglia","year":"2018","journal-title":"Lipids Health Dis."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib45","doi-asserted-by":"crossref","first-page":"17925","DOI":"10.1016\/S0021-9258(19)37131-5","article-title":"FAD-dependent regulation of transcription, translation, post-translational processing, and post-processing stability of various mitochondrial acyl-CoA dehydrogenases and of electron transfer flavoprotein and the site of holoenzyme formation","volume":"267","author":"Nagao","year":"1992","journal-title":"J. Biol. Chem."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib46","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1002\/ajmg.a.38530","article-title":"Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency","volume":"176","author":"Nimmo","year":"2018","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib47","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1007\/s10545-017-0047-1","article-title":"Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms","volume":"40","author":"Nochi","year":"2017","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib48","doi-asserted-by":"crossref","first-page":"2045","DOI":"10.1093\/brain\/awm135","article-title":"ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency","volume":"130","author":"Olsen","year":"2007","journal-title":"Brain"},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib49","doi-asserted-by":"crossref","first-page":"1130","DOI":"10.1016\/j.ajhg.2016.04.006","article-title":"Riboflavin-responsive and -non-responsive mutations in FAD synthase cause multiple acyl-CoA dehydrogenase and combined respiratory-chain deficiency","volume":"98","author":"Olsen","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib50","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1016\/S0929-693X(99)80224-3","article-title":"Leigh syndrome and leukodystrophy due to partial succinate dehydrogenase deficiency: regression with riboflavin","volume":"6","author":"Pinard","year":"1999","journal-title":"Arch. Pediatr."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib51","doi-asserted-by":"crossref","first-page":"1352","DOI":"10.1093\/ajcn\/77.6.1352","article-title":"Riboflavin (vitamin B-2) and health","volume":"77","author":"Powers","year":"2003","journal-title":"Am. J. Clin. Nutr."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib52","first-page":"256356","article-title":"A treatable neurometabolic disorder: glutaric aciduria type 1","volume":"2014","author":"Pusti","year":"2014","journal-title":"Case Rep. Pediatr."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib53","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1186\/s13023-018-0784-8","article-title":"Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?","volume":"13","author":"Repp","year":"2018","journal-title":"Orphanet. J. Rare Dis."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib54","doi-asserted-by":"crossref","first-page":"2546","DOI":"10.2174\/1568026611212220009","article-title":"Cofactors and metabolites as protein folding helpers in metabolic diseases","volume":"12","author":"Rodrigues","year":"2012","journal-title":"Curr. Top. Med. Chem."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib55","first-page":"185","article-title":"Riboflavin deficiency is associated with selective preservation of critical flavoenzyme-dependent metabolic pathways","volume":"3","author":"Ross","year":"1992","journal-title":"Biofactors"},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib56","doi-asserted-by":"crossref","first-page":"1899","DOI":"10.1074\/jbc.270.4.1899","article-title":"Isoalloxazine ring of FAD is required for the formation of the core in the Hsp60-assisted folding of medium chain acyl-CoA dehydrogenase subunit into the assembly competent conformation in mitochondria","volume":"270","author":"Saijo","year":"1995","journal-title":"J. Biol. Chem."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib57","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1542\/peds.2004-0718","article-title":"Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease","volume":"114","author":"Scaglia","year":"2004","journal-title":"Pediatrics"},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib58","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1002\/ajmg.a.36803","article-title":"Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis","volume":"167A","author":"Scalais","year":"2015","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib59","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1056\/NEJMc1513610","article-title":"SLC25A32 mutations and riboflavin-responsive exercise intolerance","volume":"374","author":"Schiff","year":"2016","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib60","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/0925-4439(95)00013-T","article-title":"Riboflavin-responsive complex I deficiency","volume":"1271","author":"Scholte","year":"1995","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib61","doi-asserted-by":"crossref","first-page":"349","DOI":"10.4103\/JPN.JPN_79_17","article-title":"Glutaric aciduria type 1 with microcephaly: masquerading as spastic cerebral palsy","volume":"13","author":"Sharawat","year":"2018","journal-title":"J. Pediatr. Neurosci."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib62","doi-asserted-by":"crossref","first-page":"1905","DOI":"10.1093\/brain\/awg170","article-title":"Minimum birth prevalence of mitochondrial respiratory chain disorders in children","volume":"126","author":"Skladal","year":"2003","journal-title":"Brain"},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib63","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1016\/j.bbacli.2016.03.004","article-title":"Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation","volume":"5","author":"Tonin","year":"2016","journal-title":"BBA Clin."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib64","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1203\/PDR.0b013e3181cbd57b","article-title":"Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency","volume":"67","author":"van Maldegem","year":"2010","journal-title":"Pediatr. Res."},{"issue":"Pt 12","key":"10.1016\/B978-0-12-811907-5.00011-7_bib65","doi-asserted-by":"crossref","first-page":"2401","DOI":"10.1093\/brain\/122.12.2401","article-title":"Riboflavin therapy. biochemical heterogeneity in two adult lipid storage myopathies","volume":"122","author":"Vergani","year":"1999","journal-title":"Brain"},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib66","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1007\/s00109-011-0725-7","article-title":"Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A","volume":"89","author":"Wang","year":"2011","journal-title":"J. Mol. Med. (Berl.)"},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib67","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1016\/j.nmd.2015.12.002","article-title":"Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency","volume":"26","author":"Wang","year":"2016","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib68","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1136\/jnnp.2009.176404","article-title":"Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations","volume":"81","author":"Wen","year":"2010","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/B978-0-12-811907-5.00011-7_bib69","series-title":"GeneReviews\u00ae [Internet]","article-title":"Short-chain acyl-CoA dehydrogenase deficiency","author":"Wolfe","year":"2011"}],"container-title":["Molecular Nutrition"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:B9780128119075000117?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:B9780128119075000117?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,12]],"date-time":"2025-09-12T09:03:01Z","timestamp":1757667781000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/B9780128119075000117"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020]]},"ISBN":["9780128119075"],"references-count":69,"URL":"https:\/\/doi.org\/10.1016\/b978-0-12-811907-5.00011-7","relation":{},"subject":[],"published":{"date-parts":[[2020]]}}}