{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,5]],"date-time":"2025-11-05T14:16:12Z","timestamp":1762352172296},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2011,12,22]],"date-time":"2011-12-22T00:00:00Z","timestamp":1324512000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurol Sci"],"published-print":{"date-parts":[[2012,12]]},"DOI":"10.1007\/s10072-011-0900-1","type":"journal-article","created":{"date-parts":[[2011,12,21]],"date-time":"2011-12-21T10:46:12Z","timestamp":1324464372000},"page":"1383-1387","source":"Crossref","is-referenced-by-count":11,"title":["Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect"],"prefix":"10.1007","volume":"33","author":[{"given":"Maria Sofia","family":"Cotelli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentina","family":"Vielmi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Rimoldi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuela","family":"Rizzetto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Castellotti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valeria","family":"Bertasi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alice","family":"Todeschini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valeria","family":"Gregorelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carla","family":"Baronchelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cinzia","family":"Gellera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Padovani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Massimiliano","family":"Filosto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2011,12,22]]},"reference":[{"key":"900_CR1","first-page":"2357","volume-title":"The metabolic and molecular bases of inherited diseases","author":"FE Frerman","year":"2001","unstructured":"Frerman FE, Goodman SI (2001) Defects of electron transfer flavoprotein and electron transfer flavoprotein ubiquinone oxidoreductase: glutaric acidemia type II. In: Scriver CR et al (eds) The metabolic and molecular bases of inherited diseases. McGraw-Hill, New York, pp 2357\u20132365"},{"key":"900_CR2","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1007\/s11910-001-0001-2","volume":"1","author":"WC Liang","year":"2001","unstructured":"Liang WC, Nishino I (2001) Lipid storage myopathy. Curr Neurol Neurosci Rep 1:97\u2013103","journal-title":"Curr Neurol Neurosci Rep"},{"key":"900_CR3","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1007\/BF01799588","volume":"13","author":"S Yamaguchi","year":"1990","unstructured":"Yamaguchi S, Orii T, Maeda K, Oshima M, Hashimoto T (1990) A new variant of glutaric aciduria type II: deficiency of beta-subunit of electron transfer flavoprotein. J Inherit Metab Dis 13:783\u2013786","journal-title":"J Inherit Metab Dis"},{"key":"900_CR4","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1016\/S1096-7192(02)00138-5","volume":"77","author":"S Goodman","year":"2002","unstructured":"Goodman S, Binard R, Woontner M, Frerman F (2002) Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene. Mol Genet Metab 77:86\u201390","journal-title":"Mol Genet Metab"},{"key":"900_CR5","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1002\/humu.10226","volume":"22","author":"RK Olsen","year":"2003","unstructured":"Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N (2003) Clear relationship between ETF\/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. Hum Mutat 22:12\u201323","journal-title":"Hum Mutat"},{"key":"900_CR6","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.ymgme.2006.01.009","volume":"88","author":"M Schiff","year":"2006","unstructured":"Schiff M, Froissart R, Olsen RK, Acquaviva C, Vianey-Saban C (2006) Electron transfer flavoprotein deficiency: functional and molecular aspects. Mol Genet Metab 88:153\u2013158","journal-title":"Mol Genet Metab"},{"key":"900_CR7","first-page":"477","volume":"321","author":"N Gregersen","year":"1990","unstructured":"Gregersen N, Rhead W, Christensen E (1990) Riboflavin responsive glutaric aciduria type II. Prog Clin Biol Res 321:477\u2013494","journal-title":"Prog Clin Biol Res"},{"key":"900_CR8","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1203\/00006450-199302000-00008","volume":"33","author":"W Rhead","year":"1993","unstructured":"Rhead W, Roettger V, Marshall T, Amendt B (1993) Multiple acyl-coenzyme A dehydrogenation disorder responsive to riboflavin: substrate oxidation, flavin metabolism, and flavoenzyme activities in fibroblasts. Pediatr Res 33:129\u2013135","journal-title":"Pediatr Res"},{"key":"900_CR9","doi-asserted-by":"crossref","first-page":"2045","DOI":"10.1093\/brain\/awm135","volume":"130","author":"RK Olsen","year":"2007","unstructured":"Olsen RK, Olpin SE, Andresen BS et al (2007) ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain 130:2045\u20132054","journal-title":"Brain"},{"key":"900_CR10","first-page":"1133","volume":"112","author":"AD Colevas","year":"1988","unstructured":"Colevas AD, Edwards JL, Hruban RH, Mitchell GA, Valle D, Hutchins GM (1988) Glutaric acidemia type II. Comparison of pathologic features in two infants. Arch Pathol Lab Med 112:1133\u20131139","journal-title":"Arch Pathol Lab Med"},{"key":"900_CR11","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.ymgme.2007.09.015","volume":"93","author":"B Angle","year":"2008","unstructured":"Angle B, Burton BK (2008) Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II. Mol Genet Metab 93:36\u201339","journal-title":"Mol Genet Metab"},{"key":"900_CR12","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1038\/sj.jp.7200325","volume":"20","author":"MA al-Essa","year":"2000","unstructured":"al-Essa MA, Rashed MS, Bakheet SM, Patay ZJ, Ozand PT (2000) Glutaric aciduria type II: observations in seven patients with neonatal- and late-onset disease. J Perinatol 20:120\u2013128","journal-title":"J Perinatol"},{"key":"900_CR13","doi-asserted-by":"crossref","first-page":"4222","DOI":"10.1074\/jbc.M805719200","volume":"284","author":"BJ Henriques","year":"2009","unstructured":"Henriques BJ, Rodrigues JV, Olsen RK, Bross P, Gomes CM (2009) Role of flavinylation in a mild variant of multiple acyl-CoA dehydrogenation deficiency: a molecular rationale for the effects of riboflavin supplementation. J Biol Chem 284:4222\u20134229","journal-title":"J Biol Chem"},{"key":"900_CR14","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/j.cca.2009.02.015","volume":"404","author":"LK Law","year":"2009","unstructured":"Law LK, Tang NL, Hui J et al (2009) Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Clin Chim Acta 404:95\u201399","journal-title":"Clin Chim Acta"},{"key":"900_CR15","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1136\/jnnp.2009.176404","volume":"81","author":"B Wen","year":"2010","unstructured":"Wen B, Dai T, Li W et al (2010) Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations. J Neurol Neurosurg Psychiatry 81:231\u2013236","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"900_CR16","doi-asserted-by":"crossref","first-page":"2037","DOI":"10.1093\/brain\/awm054","volume":"130","author":"K Gempel","year":"2007","unstructured":"Gempel K, Topaloglu H, Talim B et al (2007) The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain 130:2037\u20132044","journal-title":"Brain"},{"key":"900_CR17","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1016\/j.nmd.2009.01.008","volume":"19","author":"WC Liang","year":"2009","unstructured":"Liang WC, Ohkuma A, Hayashi YK et al (2009) ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Neuromuscul Disord 19:212\u2013216","journal-title":"Neuromuscul Disord"}],"container-title":["Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-011-0900-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10072-011-0900-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-011-0900-1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,29]],"date-time":"2019-05-29T09:19:39Z","timestamp":1559121579000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10072-011-0900-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,12,22]]},"references-count":17,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["900"],"URL":"https:\/\/doi.org\/10.1007\/s10072-011-0900-1","relation":{},"ISSN":["1590-1874","1590-3478"],"issn-type":[{"value":"1590-1874","type":"print"},{"value":"1590-3478","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,12,22]]}}}