| 1 | ETFDH
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| High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.
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| Lan MY, Fu MH, Liu YF, Huang CC, Chang YY, Liu JS, Peng CH, Chen SS.
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| Clin Genet 78(6):565-9. doi: 10.1111/j.1399-0004.2010.01421.x.
2010
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| 2 | ETFA, ETFB, ETFDH
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| Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II.
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| Angle B, Burton BK.
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| Mol Genet Metab 93(1):36-9. Epub 2007 Oct 31. 2008
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| 3 | ETFA, ETFB, ETFDH
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| Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2.
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| Yotsumoto Y, Hasegawa Y, Fukuda S, Kobayashi H, Endo M, Fukao T, Yamaguchi S.
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| Mol Genet Metab 94(1):61-7. Epub 2008 Mar 4. 2008
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| 4 | ETFDH
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| ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
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| Olsen RK, Olpin SE, Andresen BS, Miedzybrodzka ZH, Pourfarzam M, Merinero B, Frerman FE, Beresford MW, Dean JC, Cornelius N, Andersen O, Oldfors A, Holme E, Gregersen N, Turnbull DM, Morris AA.
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| Brain 130(Pt 8):2045-54. Epub 2007 Jun 20.
2007
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| 5 | ETFA, ETFB, ETFDH, GCDH, GLUTA1
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| Glutaric acidemia type 1.
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| Hedlund GL, Longo N, Pasquali M.
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| Am J Med Genet C Semin Med Genet 142(2):86-94. Review. 2006
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| 6 | SLC25A36, SLC25A32, SLC25A17, ETFA, ETFDH, FLAD1
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| Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency.
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| Spaan AN, Ijlst L, van Roermund CW, Wijburg FA, Wanders RJ, Waterham HR.
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| Mol Genet Metab 86(4):441-7. Epub 2005 Sep 13. 2005
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| 7 | ETFDH
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| Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene.
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| Goodman S, Binard R, Woontner M, Frerman F.
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| Mol Genet Metab 77(1-2):86. 2002
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| 8 | ETFDH
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| Assignment of electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO) to human chromosome 4q33 by fluorescence in situ hybridization and somatic cell hybridization.
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| Spector EB, et al.
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| Mol Genet Metab 67(4):364-7. 1999
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| 9 | ETFDH
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| Characterization of a mutation that obolishes quinone reduction by electron transfer flavoprotein-ubiquinone oxidoreductase.
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| Beard SE, et al.
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| Hum Mol Genet 4 : 157-161. 1995
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| 10 | ETFDH
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| Molecular cloning and expression of a cDNA encoding human electron transfer flavoprotein-ubiquinone oxidoreductase.
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| Goodman SI, et al.
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| Eur J Biochem 219 : 277-286. 1994
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