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345 related items for PubMed ID: 29615056

  • 1. Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report.
    Goh LL, Lee Y, Tan ES, Lim JSC, Lim CW, Dalan R.
    BMC Med Genomics; 2018 Apr 03; 11(1):37. PubMed ID: 29615056
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  • 2. 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
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  • 3. 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 13; 37(7):1099-105. PubMed ID: 27000805
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  • 9. [Mutation analysis for a family affected with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency].
    Lu J, Ji L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Aug 13; 31(4):428-32. PubMed ID: 25119904
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  • 10. 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 13; 89(6):569-76. PubMed ID: 21347544
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  • 11. A novel ETFDH mutation in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
    Chen M, Peng J, Wei W, Wang R, Xu H, Liu H.
    Int J Neurosci; 2018 Mar 13; 128(3):291-294. PubMed ID: 28914566
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  • 12. 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 13; 69(3-4):125-131. PubMed ID: 38228875
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  • 14. 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
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  • 15. 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 15; 19(3):212-6. PubMed ID: 19249206
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  • 20. [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 15; 33(2):191-4. PubMed ID: 27060313
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