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690 related items for PubMed ID: 12815589

  • 1. 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]

  • 2. Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
    Law LK, Tang NL, Hui J, Fung SL, Ruiter J, Wanders RJ, Fok TF, Lam CW.
    Clin Chim Acta; 2009 Jun 27; 404(2):95-9. PubMed ID: 19265687
    [Abstract] [Full Text] [Related]

  • 3. Assignment of Etfdh, Etfb, and Etfa to chromosomes 3, 7, and 13: the mouse homologs of genes responsible for glutaric acidemia type II in human.
    White RA, Dowler LL, Angeloni SV, Koeller DM.
    Genomics; 1996 Apr 01; 33(1):131-4. PubMed ID: 8617498
    [Abstract] [Full Text] [Related]

  • 4. Electron transfer flavoprotein deficiency: functional and molecular aspects.
    Schiff M, Froissart R, Olsen RK, Acquaviva C, Vianey-Saban C.
    Mol Genet Metab; 2006 Jun 01; 88(2):153-8. PubMed ID: 16510302
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  • 7. 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 Jun 01; 19(7):487-493. PubMed ID: 31418342
    [Abstract] [Full Text] [Related]

  • 8. Human cDNA encoding ETF dehydrogenase (ETF:ubiquinone oxido-reductase), and mutations in glutaric acidemia type II.
    Goodman SI, Bemelen KF, Frerman FE.
    Prog Clin Biol Res; 1992 Jun 01; 375():567-72. PubMed ID: 1438400
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  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.
    Olsen RK, Brøner S, Sabaratnam R, Doktor TK, Andersen HS, Bruun GH, Gahrn B, Stenbroen V, Olpin SE, Dobbie A, Gregersen N, Andresen BS.
    Hum Mutat; 2014 Jan 01; 35(1):86-95. PubMed ID: 24123825
    [Abstract] [Full Text] [Related]

  • 12. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
    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.
    Brain; 2007 Aug 01; 130(Pt 8):2045-54. PubMed ID: 17584774
    [Abstract] [Full Text] [Related]

  • 13. [Glutaric acidemia type II].
    Tanaka K, Ikeda Y, Finocchiaro G, Ito M.
    Tanpakushitsu Kakusan Koso; 1988 Apr 01; 33(5):568-74. PubMed ID: 3270865
    [No Abstract] [Full Text] [Related]

  • 14. 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.
    Wang ZQ, Chen XJ, Murong SX, Wang N, Wu ZY.
    J Mol Med (Berl); 2011 Jun 01; 89(6):569-76. PubMed ID: 21347544
    [Abstract] [Full Text] [Related]

  • 15. DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency.
    Olsen RK, Andresen BS, Christensen E, Mandel H, Skovby F, Nielsen JP, Knudsen I, Vianey-Saban C, Simonsen H, Gregersen N.
    Prenat Diagn; 2005 Jan 01; 25(1):60-4. PubMed ID: 15662686
    [Abstract] [Full Text] [Related]

  • 16. Glutaric acidemia type II: heterogeneity of clinical and biochemical phenotypes.
    Loehr JP, Goodman SI, Frerman FE.
    Pediatr Res; 1990 Mar 01; 27(3):311-5. PubMed ID: 2320399
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. 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]

  • 19. Clinical and biochemical aspects of glutaric acidemia type II.
    Goodman SI, Loehr JP, Frerman FE.
    Prog Clin Biol Res; 1990 Jul 11; 321():465-76. PubMed ID: 2326307
    [No Abstract] [Full Text] [Related]

  • 20. 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 11; 78(4):247-9. PubMed ID: 12706375
    [Abstract] [Full Text] [Related]

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