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Journal Abstract Search

213 related items for PubMed ID: 12706375

  • 1. Late-onset form of beta-electron transfer flavoprotein deficiency.
    Curcoy A, Olsen RK, Ribes A, Trenchs V, Vilaseca MA, Campistol J, Osorio JH, Andresen BS, Gregersen N.
    Mol Genet Metab; 2003 Apr; 78(4):247-9. PubMed ID: 12706375
    [Abstract] [Full Text] [Related]

  • 2. Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency.
    Henriques BJ, Lucas TG, Martins E, Gaspar A, Bandeira A, Nogueira C, Brandão O, Rocha H, Vilarinho L, Gomes CM.
    Curr Mol Med; 2019 Apr; 19(7):487-493. PubMed ID: 31418342
    [Abstract] [Full Text] [Related]

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  • 4. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.
    Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N.
    Hum Mutat; 2003 Jul; 22(1):12-23. PubMed ID: 12815589
    [Abstract] [Full Text] [Related]

  • 5. So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager.
    Beresford MW, Pourfarzam M, Turnbull DM, Davidson JE.
    Neuromuscul Disord; 2006 Apr; 16(4):269-73. PubMed ID: 16527485
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  • 7. Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle.
    Wolfe LA, He M, Vockley J, Payne N, Rhead W, Hoppel C, Spector E, Gernert K, Gibson KM.
    J Inherit Metab Dis; 2010 Dec; 33 Suppl 3(0 3):S481-7. PubMed ID: 21088898
    [Abstract] [Full Text] [Related]

  • 8. Electron transfer flavoprotein deficiency: functional and molecular aspects.
    Schiff M, Froissart R, Olsen RK, Acquaviva C, Vianey-Saban C.
    Mol Genet Metab; 2006 Jun; 88(2):153-8. PubMed ID: 16510302
    [Abstract] [Full Text] [Related]

  • 9. Coenzyme Q10 serves to couple mitochondrial oxidative phosphorylation and fatty acid β-oxidation, and attenuates NLRP3 inflammasome activation.
    Chokchaiwong S, Kuo YT, Lin SH, Hsu YC, Hsu SP, Liu YT, Chou AJ, Kao SH.
    Free Radic Res; 2018 Dec; 52(11-12):1445-1455. PubMed ID: 30003820
    [Abstract] [Full Text] [Related]

  • 10. Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency.
    Cornelius N, Byron C, Hargreaves I, Guerra PF, Furdek AK, Land J, Radford WW, Frerman F, Corydon TJ, Gregersen N, Olsen RK.
    Hum Mol Genet; 2013 Oct 01; 22(19):3819-27. PubMed ID: 23727839
    [Abstract] [Full Text] [Related]

  • 11. Multiple acyl-CoA-dehydrogenase deficiency (MADD)--a novel mutation of electron-transferring-flavoprotein dehydrogenase ETFDH.
    Lämmer AB, Rolinski B, Ahting U, Heuss D.
    J Neurol Sci; 2011 Aug 15; 307(1-2):166-7. PubMed ID: 21616504
    [Abstract] [Full Text] [Related]

  • 12. A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family.
    Ou M, Zhu L, Zhang Y, Zhang Y, Zhou J, Zhang Y, Chen X, Yang L, Li T, Su X, Hu Q, Wang W.
    BMC Med Genet; 2020 May 11; 21(1):98. PubMed ID: 32393189
    [Abstract] [Full Text] [Related]

  • 13. Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene.
    Goodman SI, Binard RJ, Woontner MR, Frerman FE.
    Mol Genet Metab; 2002 May 11; 77(1-2):86-90. PubMed ID: 12359134
    [Abstract] [Full Text] [Related]

  • 14. Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
    Fu HX, Liu XY, Wang ZQ, Jin M, Wang DN, He JJ, Lin MT, Wang N.
    Neurol Sci; 2016 Jul 11; 37(7):1099-105. PubMed ID: 27000805
    [Abstract] [Full Text] [Related]

  • 15. Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency.
    Cornelius N, Frerman FE, Corydon TJ, Palmfeldt J, Bross P, Gregersen N, Olsen RK.
    Hum Mol Genet; 2012 Aug 01; 21(15):3435-48. PubMed ID: 22611163
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  • 16. CHIP control degradation of mutant ETF:QO through ubiquitylation in late-onset multiple acyl-CoA dehydrogenase deficiency.
    Liu XY, Chen XJ, Zhao M, Wang ZQ, Chen HZ, Li HF, Wang CJ, Wu SF, Peng C, Yin Y, Fu HX, Lin MT, Yu L, Xiong ZQ, Wu ZY, Wang N.
    J Inherit Metab Dis; 2021 Mar 01; 44(2):450-468. PubMed ID: 33438237
    [Abstract] [Full Text] [Related]

  • 17. Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II.
    Xue Y, Zhou Y, Zhang K, Li L, Kayoumu A, Chen L, Wang Y, Lu Z.
    Lipids Health Dis; 2017 Sep 26; 16(1):185. PubMed ID: 28950901
    [Abstract] [Full Text] [Related]

  • 18. Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
    Missaglia S, Tavian D, Moro L, Angelini C.
    Lipids Health Dis; 2018 Nov 13; 17(1):254. PubMed ID: 30424791
    [Abstract] [Full Text] [Related]

  • 19. ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
    Liang WC, Ohkuma A, Hayashi YK, López LC, Hirano M, Nonaka I, Noguchi S, Chen LH, Jong YJ, Nishino I.
    Neuromuscul Disord; 2009 Mar 13; 19(3):212-6. PubMed ID: 19249206
    [Abstract] [Full Text] [Related]

  • 20. ETFDH Mutations and Flavin Adenine Dinucleotide Homeostasis Disturbance Are Essential for Developing Riboflavin-Responsive Multiple Acyl-Coenzyme A Dehydrogenation Deficiency.
    Xu J, Li D, Lv J, Xu X, Wen B, Lin P, Liu F, Ji K, Shan J, Li H, Li W, Zhao Y, Zhao D, Pok JY, Yan C.
    Ann Neurol; 2018 Nov 13; 84(5):659-673. PubMed ID: 30232818
    [Abstract] [Full Text] [Related]

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