{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T23:57:27Z","timestamp":1781654247925,"version":"3.54.5"},"reference-count":30,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2016,3,1]],"date-time":"2016-03-01T00:00:00Z","timestamp":1456790400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.es","clinicalkey.com.au","brainanddevelopment.com","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Brain and Development"],"published-print":{"date-parts":[[2016,3]]},"DOI":"10.1016\/j.braindev.2015.08.011","type":"journal-article","created":{"date-parts":[[2015,9,27]],"date-time":"2015-09-27T09:56:56Z","timestamp":1443347816000},"page":"293-301","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":35,"title":["Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases"],"prefix":"10.1016","volume":"38","author":[{"given":"Kenji","family":"Yamada","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hironori","family":"Kobayashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryosuke","family":"Bo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoo","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamiyan","family":"Purevsuren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuki","family":"Hasegawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeshi","family":"Taketani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seiji","family":"Fukuda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takuya","family":"Ohkubo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takanori","family":"Yokota","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mutsufusa","family":"Watanabe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taiji","family":"Tsunemi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hidehiro","family":"Mizusawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Takuma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayako","family":"Shioya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akiko","family":"Ishii","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Tamaoka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yosuke","family":"Shigematsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideo","family":"Sugie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seiji","family":"Yamaguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.braindev.2015.08.011_b0005","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/j.braindev.2004.04.004","article-title":"Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC\/MS, instead of mass screening","volume":"27","author":"Hori","year":"2005","journal-title":"Brain Dev"},{"key":"10.1016\/j.braindev.2015.08.011_b0010","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1016\/S1096-7192(02)00138-5","article-title":"Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene","volume":"77","author":"Goodman","year":"2002","journal-title":"Mol Genet Metab"},{"issue":"Suppl. 1","key":"10.1016\/j.braindev.2015.08.011_b0015","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1007\/BF03047371","article-title":"Glutaric acidaemia type II (multiple acyl-CoA dehydrogenation deficiency)","volume":"7","author":"Goodman","year":"1984","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.braindev.2015.08.011_b0020","doi-asserted-by":"crossref","first-page":"4517","DOI":"10.1073\/pnas.82.13.4517","article-title":"Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts","volume":"82","author":"Frerman","year":"1985","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.braindev.2015.08.011_b0025","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1007\/BF00442081","article-title":"Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers. I. Clinical, metabolical, and biochemical findings","volume":"139","author":"Lehnert","year":"1982","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.braindev.2015.08.011_b0030","doi-asserted-by":"crossref","first-page":"1020","DOI":"10.1016\/S0022-3476(80)80629-9","article-title":"Glutaric aciduria type II","volume":"96","author":"Sweetman","year":"1980","journal-title":"J Pediatr"},{"key":"10.1016\/j.braindev.2015.08.011_b0035","doi-asserted-by":"crossref","first-page":"1580","DOI":"10.1172\/JCI109619","article-title":"Ethylmalonic-adipic aciduria. In vivo and in vitro studies indicating deficiency of activities of multiple acyl-CoA dehydrogenases","volume":"64","author":"Mantagos","year":"1979","journal-title":"J Clin Invest"},{"key":"10.1016\/j.braindev.2015.08.011_b0040","first-page":"9","article-title":"Multiple acyl-Co A dehydrogenation deficiency (MADD) in a boy with nonketotic hypoglycemia, hepatomegaly, muscle hypotonia and cardiomyopathy. Detection of N-isovalerylglutamic acid and its monoamide","volume":"38","author":"Niederwieser","year":"1983","journal-title":"Helv Paediatr Acta"},{"key":"10.1016\/j.braindev.2015.08.011_b0045","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1146\/annurev.physiol.64.082201.154705","article-title":"Fatty acid oxidation disorders","volume":"64","author":"Rinaldo","year":"2002","journal-title":"Annu Rev Physiol"},{"key":"10.1016\/j.braindev.2015.08.011_b0050","doi-asserted-by":"crossref","first-page":"1519","DOI":"10.1212\/01.wnl.0000240065.35635.a6","article-title":"Late-onset multiple acyl-CoA dehydrogenase deficiency: a frequently missed diagnosis?","volume":"67","author":"Koppel","year":"2006","journal-title":"Neurology"},{"key":"10.1016\/j.braindev.2015.08.011_b0055","doi-asserted-by":"crossref","first-page":"2663","DOI":"10.2169\/internalmedicine.50.5172","article-title":"A case of late onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting as recurrent rhabdomyolysis and acute renal failure","volume":"50","author":"Izumi","year":"2011","journal-title":"Intern Med"},{"key":"10.1016\/j.braindev.2015.08.011_b0060","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.nmd.2011.08.004","article-title":"Adult-onset multiple acyl CoA dehydrogenation deficiency associated with an abnormal isoenzyme pattern of serum lactate dehydrogenase","volume":"22","author":"Sugai","year":"2012","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.braindev.2015.08.011_b0065","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1111\/cns.12007","article-title":"A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH gene","volume":"18","author":"Zhao","year":"2012","journal-title":"CNS Neurosci Ther"},{"key":"10.1016\/j.braindev.2015.08.011_b0070","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.ymgme.2008.01.002","article-title":"Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2","volume":"94","author":"Yotsumoto","year":"2008","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.braindev.2015.08.011_b0075","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1620\/tjem.188.317","article-title":"Automated metabolic profiling and interpretation of GC\/MS data for organic acidemia screening: a personal computer-based system","volume":"188","author":"Kimura","year":"1999","journal-title":"Tohoku J Exp Med"},{"key":"10.1016\/j.braindev.2015.08.011_b0080","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/S1570-0232(02)00077-6","article-title":"Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan","volume":"776","author":"Shigematsu","year":"2002","journal-title":"J Chromatogr B"},{"key":"10.1016\/j.braindev.2015.08.011_b0085","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1007\/s10545-012-9578-7","article-title":"Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid \u03b2-oxidation disorders in adult patients with rhabdomyolysis","volume":"37","author":"Al-Thihli","year":"2014","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.braindev.2015.08.011_b0090","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1136\/adc.56.4.287","article-title":"Reye\u2019s syndrome; diagnosis by muscle biopsy?","volume":"56","author":"Shapira","year":"1981","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.braindev.2015.08.011_b0095","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1016\/j.ymgme.2009.07.011","article-title":"Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency","volume":"98","author":"Purevsuren","year":"2009","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.braindev.2015.08.011_b0100","doi-asserted-by":"crossref","first-page":"1669","DOI":"10.1016\/j.jchromb.2010.01.046","article-title":"Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders","volume":"878","author":"Li","year":"2010","journal-title":"J Chromatogr B"},{"key":"10.1016\/j.braindev.2015.08.011_b0105","doi-asserted-by":"crossref","first-page":"4350","DOI":"10.1073\/pnas.76.9.4350","article-title":"Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications","volume":"76","author":"Towbin","year":"1979","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.braindev.2015.08.011_b0110","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1002\/mus.21881","article-title":"Subacute myopathy in a mature patient due to multiple acyl-coenzyme A dehydrogenase deficiency","volume":"43","author":"Kaminsky","year":"2011","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.braindev.2015.08.011_b0115","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\/j.braindev.2015.08.011_b0120","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.ymgme.2013.04.008","article-title":"Differences between acylcarnitine profiles in plasma and bloodspots","volume":"110","author":"de Sain-van der Velden","year":"2013","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.braindev.2015.08.011_b0125","doi-asserted-by":"crossref","first-page":"1673","DOI":"10.1016\/j.jchromb.2010.03.029","article-title":"In vitro probe acylcarnitine profiling assay using cultured fibroblasts and electrospray ionization tandem mass spectrometry predicts severity of patients with glutaric aciduria type 2","volume":"878","author":"Endo","year":"2010","journal-title":"J Chromatogr B"},{"key":"10.1016\/j.braindev.2015.08.011_b0130","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/j.ymgme.2012.07.004","article-title":"Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay","volume":"107","author":"Yamaguchi","year":"2012","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.braindev.2015.08.011_b0135","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1002\/mus.23979","article-title":"Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type II","volume":"49","author":"Rosenbohm","year":"2014","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.braindev.2015.08.011_b0140","doi-asserted-by":"crossref","first-page":"1405","DOI":"10.1056\/NEJM197912273012601","article-title":"Recurrent hypoglycemia associated with glutaric aciduria type II in an adult","volume":"301","author":"Dusheiko","year":"1979","journal-title":"N Engl J Med"},{"key":"10.1016\/j.braindev.2015.08.011_b0145","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\/j.braindev.2015.08.011_b0150","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1007\/s10545-013-9671-6","article-title":"Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency","volume":"37","author":"Xi","year":"2014","journal-title":"J Inherit Metab Dis"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760415001977?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760415001977?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T16:18:24Z","timestamp":1656692304000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760415001977"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3]]},"references-count":30,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016,3]]}},"alternative-id":["S0387760415001977"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2015.08.011","relation":{},"ISSN":["0387-7604"],"issn-type":[{"value":"0387-7604","type":"print"}],"subject":[],"published":{"date-parts":[[2016,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases","name":"articletitle","label":"Article Title"},{"value":"Brain and Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.braindev.2015.08.011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}