1 | 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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2 | 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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3 | 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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4 | ETFA, ETFB
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| Electron transfer flavoprotein deficiency: functional and molecular aspects.
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| Schiff M, Froissart R, Olsen RK, Acquaviva C, Vianey-Saban C.
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| Mol Genet Metab 88(2):153-8. Epub 2006 Feb 28. 2006
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5 | 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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6 | ETFA, ETFB
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| Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.
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| Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N.
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| Hum Mutat 22(1):12-23. 2003
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7 | ETFA
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| Expression and characterization of two pathogenic mutations in human electron transfer flavoprotein.
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| Salazar D, Zhang L, deGala GD, Frerman FE.
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| J Biol Chem 272(42):26425-33. 1997
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8 | ETFA
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| Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients.
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| Freneaux E, et al.
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| J Clin Invest 90 : 1679-1686. 1992
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9 | ETFA
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| Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable mature protein in a patient.
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| Indo Y, et al.
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| Am J Hum Genet 49 : 575-580. 1991
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10 | ACADS, ETFA
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| Short chain acyl-CoA dehydrogenase (ACADS) maps to chromosomes 12 (q22-qter) and electron transfer flavoprotein (ETFA) to 15(q23-q25).
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| Barton DE, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 577. 1987
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11 | ETFA
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| Biosynthesis and mitochondrial processing of electron transfer flavoprotein : a defect in the alpha-subunit synthesis is a primary lesion in glutaric aciduria type II.
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| Ikeda Y, et al.
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| J Clin Invest 78 : 997-1002. 1986
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12 | ETFA
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| Deficiency of electron transfer flavoprotein or electron transfer flavoprotein : ubiquinone oxidoreductase in glutaric acidemia type II fibroblats.
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| Frerman RE, et al.
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| Proc Natl Acad Sci U S A 82 : 4517-4520. 1985
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13 | ETFA
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| Multiple acyl Co-A dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria: possible inherited deficiency of an electron transfer flavoprotein.
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| Goodman SI, et al.
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| Pediatr Res 14 : 12-17. 1980
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14 | ETFA
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| Glutaric aciduria type II: report on a previously undescribed metabolic disorder.
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| Przyrembel H, et al.
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| Clin Chim Acta 66 : 227-239. 1976
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