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162 related items for PubMed ID: 3116495

  • 1. Systemic deficiency of the first component of the pyruvate dehydrogenase complex.
    Kerr DS, Ho L, Berlin CM, Lanoue KF, Towfighi J, Hoppel CL, Lusk MM, Gondek CM, Patel MS.
    Pediatr Res; 1987 Sep; 22(3):312-8. PubMed ID: 3116495
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  • 2. A deficiency of both subunits of pyruvate dehydrogenase which is not expressed in fibroblasts.
    Kerr DS, Berry SA, Lusk MM, Ho L, Patel MS.
    Pediatr Res; 1988 Jul; 24(1):95-100. PubMed ID: 3137520
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  • 3. Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy.
    Miyabayashi S, Ito T, Narisawa K, Iinuma K, Tada K.
    Eur J Pediatr; 1985 Mar; 143(4):278-83. PubMed ID: 2985393
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  • 4. Deficiency of pyruvate dehydrogenase complex in tissues of an eight month old infant.
    Hansikova H, Zeman J, Klement P, Technikova-Dobrova Z, Houstkova H, Houstek J, Papa S.
    Biochem Mol Biol Int; 1993 Dec; 31(6):1157-66. PubMed ID: 8193600
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  • 5. 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 Dec; 89(1-2):97-105. PubMed ID: 16765624
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  • 12. Molecular genetic characterization of an X-linked form of Leigh's syndrome.
    Matthews PM, Marchington DR, Squier M, Land J, Brown RM, Brown GK.
    Ann Neurol; 1993 Jun; 33(6):652-5. PubMed ID: 8498846
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  • 15. Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis.
    Moreadith RW, Batshaw ML, Ohnishi T, Kerr D, Knox B, Jackson D, Hruban R, Olson J, Reynafarje B, Lehninger AL.
    J Clin Invest; 1984 Sep; 74(3):685-97. PubMed ID: 6432847
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  • 16. Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia.
    Robinson BH, MacKay N, Petrova-Benedict R, Ozalp I, Coskun T, Stacpoole PW.
    J Clin Invest; 1990 Jun; 85(6):1821-4. PubMed ID: 2112155
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  • 17. Abnormal pyruvate and alpha-ketoglutarate dehydrogenase complexes in a patient with lactic acidemia.
    Kuroda Y, Kline JJ, Sweetman L, Nyhan WL, Groshong TD.
    Pediatr Res; 1979 Aug; 13(8):928-31. PubMed ID: 481967
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  • 18. Cytochrome c oxidase deficiency and long-chain acyl coenzyme A dehydrogenase deficiency with Leigh's subacute necrotizing encephalomyelopathy.
    Reichmann H, Scheel H, Bier B, Ketelsen UP, Zabransky S.
    Ann Neurol; 1992 Jan; 31(1):107-9. PubMed ID: 1311909
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  • 19. Deficiency of the pyruvate dehydrogenase component in pyruvate dehydrogenase complex-deficient human fibroblasts. Immunological identification.
    Ho L, Hu CW, Packman S, Patel MS.
    J Clin Invest; 1986 Sep; 78(3):844-7. PubMed ID: 3091638
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  • 20. Characterization of point mutations in patients with pyruvate dehydrogenase deficiency: role of methionine-181, proline-188, and arginine-349 in the alpha subunit.
    Tripatara A, Korotchkina LG, Patel MS.
    Arch Biochem Biophys; 1999 Jul 01; 367(1):39-50. PubMed ID: 10375397
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