{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T16:44:43Z","timestamp":1780073083585,"version":"3.54.0"},"reference-count":21,"publisher":"Springer Science and Business Media LLC","issue":"1","funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81400834"],"award-info":[{"award-number":["81400834"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81500589"],"award-info":[{"award-number":["81500589"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81570799"],"award-info":[{"award-number":["81570799"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Lipids Health Dis"],"published-print":{"date-parts":[[2017,12]]},"DOI":"10.1186\/s12944-017-0576-5","type":"journal-article","created":{"date-parts":[[2017,9,26]],"date-time":"2017-09-26T08:12:01Z","timestamp":1506413521000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II"],"prefix":"10.1186","volume":"16","author":[{"given":"Ying","family":"Xue","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keqin","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abudurexiti","family":"Kayoumu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liye","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuhui","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiqiang","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,9,26]]},"reference":[{"key":"576_CR1","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1016\/S1096-7192(02)00138-5","volume":"77","author":"SI Goodman","year":"2002","unstructured":"Goodman SI, Binard RJ, Woontner MR, Frerman FE. Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene. Mol Genet Metab. 2002;77:86\u201390.","journal-title":"Mol Genet Metab"},{"key":"576_CR2","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/j.braindev.2015.08.011","volume":"38","author":"K Yamada","year":"2016","unstructured":"Yamada K, Kobayashi H, Bo R, Takahashi T, Purevsuren J, Hasegawa Y, Taketani T, Fukuda S, Ohkubo T, Yokota T, et al. Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases. Brain and Development. 2016;38:293\u2013301.","journal-title":"Brain and Development"},{"key":"576_CR3","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, Miedzybrodzka ZH, Pourfarzam M, Merinero B, Frerman FE, Beresford MW, Dean JC, Cornelius N, et al. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain. 2007;130:2045\u201354.","journal-title":"Brain"},{"key":"576_CR4","first-page":"1910","volume":"2010","author":"NJ Watmough","year":"1797","unstructured":"Watmough NJ, Frerman FE. The electron transfer flavoprotein: ubiquinone oxidoreductases. Biochim Biophys Acta. 1797;2010:1910\u20136.","journal-title":"Biochim Biophys Acta"},{"key":"576_CR5","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405\u201324.","journal-title":"Genet Med"},{"key":"576_CR6","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. Clear relationship between ETF\/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. Hum Mutat. 2003;22:12\u201323.","journal-title":"Hum Mutat"},{"key":"576_CR7","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1023\/B:BOLI.0000042986.10291.e9","volume":"27","author":"RK Olsen","year":"2004","unstructured":"Olsen RK, Pourfarzam M, Morris AA, Dias RC, Knudsen I, Andresen BS, Gregersen N, Olpin SE. Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency. J Inherit Metab Dis. 2004;27:671\u20138.","journal-title":"J Inherit Metab Dis"},{"key":"576_CR8","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1007\/s10545-013-9671-6","volume":"37","author":"J Xi","year":"2014","unstructured":"Xi J, Wen B, Lin J, Zhu W, Luo S, Zhao C, Li D, Lin P, Lu J, Yan C. Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2014;37:399\u2013404.","journal-title":"J Inherit Metab Dis"},{"issue":"Unit7","key":"576_CR9","first-page":"20","volume":"Chapter 7","author":"I Adzhubei","year":"2013","unstructured":"Adzhubei I, Jordan DM, Sunyaev SR. Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet. 2013;Chapter 7(Unit7):20.","journal-title":"Curr Protoc Hum Genet"},{"key":"576_CR10","doi-asserted-by":"crossref","first-page":"3812","DOI":"10.1093\/nar\/gkg509","volume":"31","author":"PC Ng","year":"2003","unstructured":"Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res. 2003;31:3812\u20134.","journal-title":"Nucleic Acids Res"},{"key":"576_CR11","doi-asserted-by":"crossref","first-page":"3497","DOI":"10.1093\/nar\/gkg500","volume":"31","author":"R Chenna","year":"2003","unstructured":"Chenna R, Sugawara H, Koike T, Lopez R, Gibson TJ, Higgins DG, Thompson JD. Multiple sequence alignment with the Clustal series of programs. Nucleic Acids Res. 2003;31:3497\u2013500.","journal-title":"Nucleic Acids Res"},{"key":"576_CR12","doi-asserted-by":"crossref","first-page":"16212","DOI":"10.1073\/pnas.0604567103","volume":"103","author":"J Zhang","year":"2006","unstructured":"Zhang J, Frerman FE, Kim JJ. Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool. Proc Natl Acad Sci U S A. 2006;103:16212\u20137.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"576_CR13","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1146\/annurev.biophys.29.1.291","volume":"29","author":"MA Marti-Renom","year":"2000","unstructured":"Marti-Renom MA, Stuart AC, Fiser A, Sanchez R, Melo F, Sali A. Comparative protein structure modeling of genes and genomes. Annu Rev Biophys Biomol Struct. 2000;29:291\u2013325.","journal-title":"Annu Rev Biophys Biomol Struct"},{"key":"576_CR14","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1111\/j.1399-0004.2010.01421.x","volume":"78","author":"MY Lan","year":"2010","unstructured":"Lan MY, Fu MH, Liu YF, Huang CC, Chang YY, Liu JS, Peng CH, Chen SS. High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy. Clin Genet. 2010;78:565\u20139.","journal-title":"Clin Genet"},{"key":"576_CR15","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1007\/s00109-011-0725-7","volume":"89","author":"ZQ Wang","year":"2011","unstructured":"Wang ZQ, Chen XJ, Murong SX, Wang N, Wu ZY. 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. J Mol Med (Berl). 2011;89:569\u201376.","journal-title":"J Mol Med (Berl)"},{"key":"576_CR16","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, Lopez LC, Hirano M, Nonaka I, Noguchi S, Chen LH, Jong YJ, Nishino I. ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Neuromuscul Disord. 2009;19:212\u20136.","journal-title":"Neuromuscul Disord"},{"key":"576_CR17","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1016\/j.nmd.2015.12.002","volume":"26","author":"Z Wang","year":"2016","unstructured":"Wang Z, Hong D, Zhang W, Li W, Shi X, Zhao D, Yang X, Lv H, Yuan Y. Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency. Neuromuscul Disord. 2016;26:170\u20135.","journal-title":"Neuromuscul Disord"},{"key":"576_CR18","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1186\/s12883-015-0380-7","volume":"15","author":"Y Peng","year":"2015","unstructured":"Peng Y, Zhu M, Zheng J, Zhu Y, Li X, Wei C, Hong D. Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review. BMC Neurol. 2015;15:114.","journal-title":"BMC Neurol"},{"issue":"Suppl 3","key":"576_CR19","doi-asserted-by":"crossref","first-page":"S481","DOI":"10.1007\/s10545-010-9246-8","volume":"33","author":"LA Wolfe","year":"2010","unstructured":"Wolfe LA, He M, Vockley J, Payne N, Rhead W, Hoppel C, Spector E, Gernert K, Gibson KM. Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle. J Inherit Metab Dis. 2010;33(Suppl 3):S481\u20137.","journal-title":"J Inherit Metab Dis"},{"key":"576_CR20","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, Zhao Y, Liu S, Zhang C, Li H, Wu J, Li D, Yan C. Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations. J Neurol Neurosurg Psychiatry. 2010;81:231\u20136.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"576_CR21","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1186\/1472-6807-11-43","volume":"11","author":"TK Er","year":"2011","unstructured":"Er TK, Chen CC, Liu YY, Chang HC, Chien YH, Chang JG, Hwang JK, Jong YJ. Computational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motif. BMC Struct Biol. 2011;11:43.","journal-title":"BMC Struct Biol"}],"container-title":["Lipids in Health and Disease"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12944-017-0576-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,9,26]],"date-time":"2017-09-26T08:12:12Z","timestamp":1506413532000},"score":1,"resource":{"primary":{"URL":"http:\/\/lipidworld.biomedcentral.com\/articles\/10.1186\/s12944-017-0576-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9,26]]},"references-count":21,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,12]]}},"alternative-id":["576"],"URL":"https:\/\/doi.org\/10.1186\/s12944-017-0576-5","relation":{},"ISSN":["1476-511X"],"issn-type":[{"value":"1476-511X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,9,26]]},"article-number":"185"}}