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Journal Abstract Search

202 related items for PubMed ID: 27060313

  • 1. [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; 33(2):191-4. PubMed ID: 27060313
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 4. High resolution melting analysis facilitates mutation screening of ETFDH gene: applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
    Er TK, Liang WC, Chang JG, Jong YJ.
    Clin Chim Acta; 2010 May 02; 411(9-10):690-9. PubMed ID: 20138856
    [Abstract] [Full Text] [Related]

  • 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 02; 37(7):1099-105. PubMed ID: 27000805
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 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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  • 11. [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 03; 20(7):529-533. PubMed ID: 30022752
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  • 13. 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 03; 89(6):569-76. PubMed ID: 21347544
    [Abstract] [Full Text] [Related]

  • 14. Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency.
    Wang Z, Hong D, Zhang W, Li W, Shi X, Zhao D, Yang X, Lv H, Yuan Y.
    Neuromuscul Disord; 2016 Feb 03; 26(2):170-5. PubMed ID: 26821934
    [Abstract] [Full Text] [Related]

  • 15. Pregnancy of a patient with multiple Acyl-CoA dehydrogenation deficiency (MADD).
    Trakadis Y, Kadlubowska D, Barnes R, Mitchell J, Spector E, Frerman F, Melancon S.
    Mol Genet Metab; 2012 Aug 03; 106(4):491-4. PubMed ID: 22664151
    [Abstract] [Full Text] [Related]

  • 16. Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD) in the ETFDH gene: A case report and a literature review.
    Ding M, Liu R, Qiubo L, Zhang Y, Kong Q.
    Medicine (Baltimore); 2020 Sep 11; 99(37):e21944. PubMed ID: 32925727
    [Abstract] [Full Text] [Related]

  • 17. High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.
    Lan MY, Fu MH, Liu YF, Huang CC, Chang YY, Liu JS, Peng CH, Chen SS.
    Clin Genet; 2010 Dec 11; 78(6):565-9. PubMed ID: 20370797
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. Multiple acyl-CoA dehydrogenation deficiency as decreased acyl-carnitine profile in serum.
    Wen B, Li D, Li W, Zhao Y, Yan C.
    Neurol Sci; 2015 Jun 11; 36(6):853-9. PubMed ID: 25827849
    [Abstract] [Full Text] [Related]

  • 20. Clinical characteristics and gene mutation analysis of an adult patient with ETFDH‑related multiple acyl‑CoA dehydrogenase deficiency.
    Wang C, Lv H, Xu X, Ma Y, Li Q.
    Mol Med Rep; 2020 Nov 11; 22(5):4396-4402. PubMed ID: 33000234
    [Abstract] [Full Text] [Related]

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