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Journal Abstract Search

222 related items for PubMed ID: 21454027

  • 1. Beneficial effect of pyruvate therapy on Leigh syndrome due to a novel mutation in PDH E1α gene.
    Koga Y, Povalko N, Katayama K, Kakimoto N, Matsuishi T, Naito E, Tanaka M.
    Brain Dev; 2012 Feb; 34(2):87-91. PubMed ID: 21454027
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  • 2. A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene.
    Tulinius M, Darin N, Wiklund LM, Holmberg E, Eriksson JE, Lissens W, De Meirleir L, Holme E.
    Eur J Pediatr; 2005 Feb; 164(2):99-103. PubMed ID: 15558317
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  • 3. The SR protein SC35 is responsible for aberrant splicing of the E1alpha pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosis.
    Gabut M, Miné M, Marsac C, Brivet M, Tazi J, Soret J.
    Mol Cell Biol; 2005 Apr; 25(8):3286-94. PubMed ID: 15798212
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  • 7. Detection of pyruvate metabolism disorders by culture of skin fibroblasts with dichloroacetate.
    Naito E, Kuroda Y, Takeda E, Yokota I, Kobashi H, Miyao M.
    Pediatr Res; 1988 Jun; 23(6):561-4. PubMed ID: 2839811
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  • 9. Magnetic resonance spectroscopic investigation of mitochondrial fuel metabolism and energetics in cultured human fibroblasts: effects of pyruvate dehydrogenase complex deficiency and dichloroacetate.
    Simpson NE, Han Z, Berendzen KM, Sweeney CA, Oca-Cossio JA, Constantinidis I, Stacpoole PW.
    Mol Genet Metab; 2006 Jun; 89(1-2):97-105. PubMed ID: 16765624
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  • 11. Differential effect of DCA treatment on the pyruvate dehydrogenase complex in patients with severe PDHC deficiency.
    Fouque F, Brivet M, Boutron A, Vequaud C, Marsac C, Zabot MT, Benelli C.
    Pediatr Res; 2003 May; 53(5):793-9. PubMed ID: 12621116
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  • 13. Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.
    DeBrosse SD, Okajima K, Zhang S, Nakouzi G, Schmotzer CL, Lusk-Kopp M, Frohnapfel MB, Grahame G, Kerr DS.
    Mol Genet Metab; 2012 Nov; 107(3):394-402. PubMed ID: 23021068
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  • 14. Dichloroacetate stabilizes the intraoperative acid-base balance during liver transplantation.
    Shangraw RE, Lohan-Mannion D, Hayes A, Moriarty RM, Fu R, Robinson ST.
    Liver Transpl; 2008 Jul; 14(7):989-98. PubMed ID: 18581513
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  • 15. Partial pyruvate decarboxylase deficiency with profound lactic acidosis and hyperammonemia: responses to dichloroacetate and benzoate.
    McCormick K, Viscardi RM, Robinson B, Heininger J.
    Am J Med Genet; 1985 Oct; 22(2):291-9. PubMed ID: 4050860
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  • 16. A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1.
    Brown RM, Head RA, Boubriak II, Leonard JV, Brown GK.
    Hum Mutat; 2003 Dec; 22(6):496-7. PubMed ID: 14635113
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  • 17. Pharmacokinetics and pharmacodynamics of dichloroacetate in children with lactic acidosis due to severe malaria.
    Krishna S, Agbenyega T, Angus BJ, Bedu-Addo G, Ofori-Amanfo G, Henderson G, Szwandt IS, O'Brien R, Stacpoole PW.
    QJM; 1995 May; 88(5):341-9. PubMed ID: 7796089
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  • 18. [Dose dependent effects of dichloroacetate on lactic acidosis in dogs].
    Fujita Y, Fukui A, Yoshida H, Ohsumi A, Sakai T, Takaori M.
    Masui; 1989 Aug; 38(8):1005-11. PubMed ID: 2810694
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  • 19. Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial.
    Kaufmann P, Engelstad K, Wei Y, Jhung S, Sano MC, Shungu DC, Millar WS, Hong X, Gooch CL, Mao X, Pascual JM, Hirano M, Stacpoole PW, DiMauro S, De Vivo DC.
    Neurology; 2006 Feb 14; 66(3):324-30. PubMed ID: 16476929
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  • 20. Disorders of pyruvate metabolism.
    De Meirleir L.
    Handb Clin Neurol; 2013 Feb 14; 113():1667-73. PubMed ID: 23622387
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