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193 related items for PubMed ID: 23106979

  • 1. A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH gene.
    Zhao ZN, Bao MX, Ma GT, Liu XM, Xu WJ, Sun ZW, Chen H, Zhu MJ.
    CNS Neurosci Ther; 2012 Nov; 18(11):952-4. PubMed ID: 23106979
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  • 3. 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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  • 5. 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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  • 7. Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations.
    Chen W, Zhang Y, Ni Y, Cai S, Zheng X, Mastaglia FL, Wu J.
    BMC Neurol; 2019 Dec 18; 19(1):330. PubMed ID: 31852447
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  • 8. 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
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  • 13. Amelioration of acylcarnitine profile using bezafibrate and riboflavin in a case of adult-onset glutaric acidemia type 2 with novel mutations of the electron transfer flavoprotein dehydrogenase (ETFDH) gene.
    Shioya A, Takuma H, Yamaguchi S, Ishii A, Hiroki M, Fukuda T, Sugie H, Shigematsu Y, Tamaoka A.
    J Neurol Sci; 2014 Nov 15; 346(1-2):350-2. PubMed ID: 25216552
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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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  • 19. [A novel mutation in the ETFDH gene of an infant with multiple acyl-CoA dehydrogenase deficiency].
    Gao A, Qiao LW, Duan CY, Zhao NN, Zhang W, Zhang Q.
    Zhongguo Dang Dai Er Ke Za Zhi; 2018 Jul 15; 20(7):529-533. PubMed ID: 30022752
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  • 20. [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 15; 31(4):428-32. PubMed ID: 25119904
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