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Journal Abstract Search

142 related items for PubMed ID: 6894281

  • 1. Lactic acidemia, neurologic deterioration and carbohydrate dependence in a girl with dihydrolipoyl dehydrogenase deficiency.
    Robinson BH, Taylor J, Kahler SG, Kirkman HN.
    Eur J Pediatr; 1981 Mar; 136(1):35-9. PubMed ID: 6894281
    [No Abstract] [Full Text] [Related]

  • 2. Pyruvate dehydrogenase subcomplex with lipoamide dehydrogenase deficiency in a patient with lactic acidosis and branched chain ketoaciduria.
    Matuda S, Kitano A, Sakaguchi Y, Yoshino M, Saheki T.
    Clin Chim Acta; 1984 Jun 27; 140(1):59-64. PubMed ID: 6430599
    [Abstract] [Full Text] [Related]

  • 3. Congenital lactic acidosis, alpha-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect: dihydrolipoyl dehydrogenase deficiency.
    Munnich A, Saudubray JM, Taylor J, Charpentier C, Marsac C, Rocchiccioli F, Amedee-Manesme O, Coude FX, Frezal J, Robinson BH.
    Acta Paediatr Scand; 1982 Jan 27; 71(1):167-71. PubMed ID: 6897145
    [Abstract] [Full Text] [Related]

  • 4. Lipoamide dehydrogenase deficiency with primary lactic acidosis: favorable response to treatment with oral lipoic acid.
    Matalon R, Stumpf DA, Michals K, Hart RD, Parks JK, Goodman SI.
    J Pediatr; 1984 Jan 27; 104(1):65-9. PubMed ID: 6418873
    [Abstract] [Full Text] [Related]

  • 5. Deficiency of dihydrolipoyl dehydrogenase (a component of the pyruvate and alpha-ketoglutarate dehydrogenase complexes): a cause of congenital chronic lactic acidosis in infancy.
    Robinson BH, Taylor J, Sherwood WG.
    Pediatr Res; 1977 Dec 27; 11(12):1198-202. PubMed ID: 413089
    [Abstract] [Full Text] [Related]

  • 6. [Pyruvate-dehydrogenase deficiency. Lethal course of the disease during infancy (author's transl)].
    Wendel U, Przyrembel H, Becker K, Walther B, Berger R, Bremer HJ.
    Monatsschr Kinderheilkd (1902); 1978 Mar 27; 126(3):140-7. PubMed ID: 417240
    [Abstract] [Full Text] [Related]

  • 7. Immunochemical analysis of pyruvate dehydrogenase complex in 2 boys with primary lactic acidemia.
    Kitano A, Endo F, Matsuda I.
    Neurology; 1990 Aug 27; 40(8):1312-4. PubMed ID: 2381545
    [Abstract] [Full Text] [Related]

  • 8. 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 27; 78(3):844-7. PubMed ID: 3091638
    [Abstract] [Full Text] [Related]

  • 9. Disorders of the pyruvate dehydrogenase complex.
    Stansbie D, Wallace SJ, Marsac C.
    J Inherit Metab Dis; 1986 Sep 27; 9(2):105-19. PubMed ID: 3018357
    [Abstract] [Full Text] [Related]

  • 10. Leigh disease with deficiency of lipoamide dehydrogenase: treatment failure with dichloroacetate.
    Craigen WJ.
    Pediatr Neurol; 1996 Jan 27; 14(1):69-71. PubMed ID: 8652022
    [Abstract] [Full Text] [Related]

  • 11. A defect in branched-chain amino acid metabolism in a patient with congenital lactic acidosis due to dihydrolipoyl dehydrogenase deficiency.
    Taylor J, Robinson BH, Sherwood WG.
    Pediatr Res; 1978 Jan 27; 12(1):60-2. PubMed ID: 643378
    [Abstract] [Full Text] [Related]

  • 12. Congenital lacticacidemia caused by lipoamide dehydrogenase deficiency with favorable outcome.
    Elpeleg ON, Ruitenbeek W, Jakobs C, Barash V, De Vivo DC, Amir N.
    J Pediatr; 1995 Jan 27; 126(1):72-4. PubMed ID: 7815230
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  • 14. Demonstration of an unstable variant of pyruvate dehydrogenase protein (E1) in cultured fibroblasts from a patient with congenital lactic acidemia.
    Huq AH, Ito M, Naito E, Saijo T, Takeda E, Kuroda Y.
    Pediatr Res; 1991 Jul 27; 30(1):11-4. PubMed ID: 1909778
    [Abstract] [Full Text] [Related]

  • 15. Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain.
    Shany E, Saada A, Landau D, Shaag A, Hershkovitz E, Elpeleg ON.
    Biochem Biophys Res Commun; 1999 Aug 19; 262(1):163-6. PubMed ID: 10448086
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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 19; 13(8):928-31. PubMed ID: 481967
    [Abstract] [Full Text] [Related]

  • 18. Diagnosis of partial deficiency of the pyruvate dehydrogenase complex in biopsied muscle.
    Toshima K, Kuroda Y, Naito E, Yokota I, Ito M, Watanabe T, Takeda E, Miyao M, Nonaka I.
    Neurology; 1985 Nov 19; 35(11):1670-2. PubMed ID: 3932899
    [Abstract] [Full Text] [Related]

  • 19. A decrease in glycine cleavage activity in the liver of a patient with dihydrolipoyl dehydrogenase deficiency.
    Yoshino M, Koga Y, Yamashita F.
    J Inherit Metab Dis; 1986 Nov 19; 9(4):399-400. PubMed ID: 3104678
    [No Abstract] [Full Text] [Related]

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