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Journal Abstract Search

126 related items for PubMed ID: 9540846

  • 21. 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
    [Abstract] [Full Text] [Related]

  • 22. Assays of pyruvate dehydrogenase complex and pyruvate carboxylase activity.
    Kerr D, Grahame G, Nakouzi G.
    Methods Mol Biol; 2012 Aug; 837():93-119. PubMed ID: 22215543
    [Abstract] [Full Text] [Related]

  • 23. First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X, an additional lipoyl-containing subunit of the human pyruvate dehydrogenase complex.
    Rouillac C, Aral B, Fouque F, Marchant D, Saudubray JM, Dumez Y, Lindsay G, Abitbol M, Dufier JL, Marsac C, Benelli C.
    Prenat Diagn; 1999 Dec; 19(12):1160-4. PubMed ID: 10590436
    [Abstract] [Full Text] [Related]

  • 24. Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit.
    Hemalatha SG, Kerr DS, Wexler ID, Lusk MM, Kaung M, Du Y, Kolli M, Schelper RL, Patel MS.
    Hum Mol Genet; 1995 Feb; 4(2):315-8. PubMed ID: 7757088
    [No Abstract] [Full Text] [Related]

  • 25. Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.
    Imbard A, Boutron A, Vequaud C, Zater M, de Lonlay P, de Baulny HO, Barnerias C, Miné M, Marsac C, Saudubray JM, Brivet M.
    Mol Genet Metab; 2011 Dec; 104(4):507-16. PubMed ID: 21914562
    [Abstract] [Full Text] [Related]

  • 26. Lactic acidosis and developmental delay due to deficiency of E3 binding protein (protein X) of the pyruvate dehydrogenase complex.
    Ramadan DG, Head RA, Al-Tawari A, Habeeb Y, Zaki M, Al-Ruqum F, Besley GT, Wraith JE, Brown RM, Brown GK.
    J Inherit Metab Dis; 2004 Dec; 27(4):477-85. PubMed ID: 15303005
    [Abstract] [Full Text] [Related]

  • 27. Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency.
    Shin HK, Grahame G, McCandless SE, Kerr DS, Bedoyan JK.
    Mol Genet Metab; 2017 Nov; 122(3):61-66. PubMed ID: 28918066
    [Abstract] [Full Text] [Related]

  • 28. Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.
    Huang X, Bedoyan JK, Demirbas D, Harris DJ, Miron A, Edelheit S, Grahame G, DeBrosse SD, Wong LJ, Hoppel CL, Kerr DS, Anselm I, Berry GT.
    Mol Genet Metab; 2017 Mar; 120(3):213-222. PubMed ID: 27913098
    [Abstract] [Full Text] [Related]

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  • 32. Fatal ataxic encephalopathy and carnitine acetyltransferase deficiency: a functional defect of pyruvate oxidation?
    DiDonato S, Rimoldi M, Moise A, Bertagnoglio B, Uziel G.
    Neurology; 1979 Dec; 29(12):1578-83. PubMed ID: 574220
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  • 34. 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
    [Abstract] [Full Text] [Related]

  • 35. 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
    [Abstract] [Full Text] [Related]

  • 36. Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.
    Bedoyan JK, Yang SP, Ferdinandusse S, Jack RM, Miron A, Grahame G, DeBrosse SD, Hoppel CL, Kerr DS, Wanders RJA.
    Mol Genet Metab; 2017 Apr; 120(4):342-349. PubMed ID: 28202214
    [Abstract] [Full Text] [Related]

  • 37. Molecular cloning of dihydrolipoamide acetyltransferase of the rat pyruvate dehydrogenase complex: sequence comparison and evolutionary relationship to other dihydrolipoamide acyltransferases.
    Matuda S, Nakano K, Ohta S, Shimura M, Yamanaka T, Nakagawa S, Titani K, Miyata T.
    Biochim Biophys Acta; 1992 May 07; 1131(1):114-8. PubMed ID: 1581353
    [Abstract] [Full Text] [Related]

  • 38. Rat liver mitochondria contain two immunologically distinct dihydrolipoamide dehydrogenases.
    Carothers DJ, Raefsky-Estrin C, Pons G, Patel MS.
    Arch Biochem Biophys; 1987 Aug 01; 256(2):597-605. PubMed ID: 3619448
    [Abstract] [Full Text] [Related]

  • 39. Deficiency of pyruvate dehydrogenase complex (PDHC) in Leigh's disease fibroblasts: an abnormality in lipoamide dehydrogenase affecting PDHC activation.
    Hinman LM, Sheu KF, Baker AC, Kim YT, Blass JP.
    Neurology; 1989 Jan 01; 39(1):70-5. PubMed ID: 2909916
    [Abstract] [Full Text] [Related]

  • 40. Genetic defects in human pyruvate dehydrogenase.
    Ho L, Wexler ID, Kerr DS, Patel MS.
    Ann N Y Acad Sci; 1989 Jan 01; 573():347-59. PubMed ID: 2517464
    [Abstract] [Full Text] [Related]

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