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PUBMED FOR HANDHELDS

Journal Abstract Search


509 related items for PubMed ID: 17412732

  • 41.
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  • 42. A family with riboflavin-reactive lipid deposition myopathy caused by a novel compound heterozygous mutation in the electron transfer flavoprotein dehydrogenase gene.
    Wu Y, Han J, Wang Y, Zhang J, Song X, Ji G.
    J Int Med Res; 2020 Nov; 48(11):300060520966499. PubMed ID: 33131365
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  • 43. ETF dehydrogenase advances in molecular genetics and impact on treatment.
    Missaglia S, Tavian D, Angelini C.
    Crit Rev Biochem Mol Biol; 2021 Aug; 56(4):360-372. PubMed ID: 33823724
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  • 45. 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
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  • 46. A comparative study on riboflavin responsive multiple acyl-CoA dehydrogenation deficiency due to variants in FLAD1 and ETFDH gene.
    Wen B, Tang R, Tang S, Sun Y, Xu J, Zhao D, Wang T, Yan C.
    J Hum Genet; 2024 Apr; 69(3-4):125-131. PubMed ID: 38228875
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  • 48. Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
    Ishii K, Komaki H, Ohkuma A, Nishino I, Nonaka I, Sasaki M.
    Brain Dev; 2010 Sep; 32(8):669-72. PubMed ID: 19783111
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  • 49. 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; 44(2):450-468. PubMed ID: 33438237
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  • 52. Rhabdomyolysis and respiratory insufficiency due to the common ETFDH mutation of c.250G>A in two patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
    Chen HZ, Jin M, Cai NQ, Lin XD, Liu XY, Xu LQ, Lin MT, Lin F, Wang N, Wang ZQ, Xu GR.
    Chin Med J (Engl); 2019 Jul 05; 132(13):1615-1618. PubMed ID: 31058673
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  • 53. Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases.
    Kim YJ, Ko JM, Song J, Lee KA.
    Ann Lab Med; 2018 Nov 05; 38(6):616-618. PubMed ID: 30027710
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  • 54. [Clinical features and gene mutations in a patient with multiple aeyl-CoA dehydrogenase deficiency with severe fatty liver].
    Dai D, Wen F, Zhou S, Chen S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Apr 05; 33(2):191-4. PubMed ID: 27060313
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