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Journal Abstract Search

258 related items for PubMed ID: 28914566

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  • 3. 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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  • 5. 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 27; 37(7):1099-105. PubMed ID: 27000805
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  • 7. 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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  • 10. 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 03; 19(7):487-493. PubMed ID: 31418342
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  • 15. Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation.
    Wen B, Li D, Shan J, Liu S, Li W, Zhao Y, Lin P, Zheng J, Li D, Gong Y, Yan C.
    Mol Genet Metab; 2013 Jun 03; 109(2):154-60. PubMed ID: 23628458
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  • 19. 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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  • 20. Long-term outcomes of a patient with late-onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutations in ETFDH: A case report.
    Wang J, Wu JC, Yu XE, Han YZ, Yang RM.
    Medicine (Baltimore); 2018 Nov 15; 97(48):e13153. PubMed ID: 30508893
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