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Journal Abstract Search

87 related items for PubMed ID: 6434859

  • 1. Chemical diagnosis of dihydrolipoyl dehydrogenase deficiency.
    Kuhara T, Inoue Y, Shinka T, Matsumoto M, Matsumoto I, Yoshino M, Okada S.
    J Inherit Metab Dis; 1984; 7 Suppl 2():115-6. PubMed ID: 6434859
    [No Abstract] [Full Text] [Related]

  • 2. 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; 71(1):167-71. PubMed ID: 6897145
    [Abstract] [Full Text] [Related]

  • 3. Recurrent Liver Failure in an 11-Year-Old Boy.
    Neveu J, Hoebeke C, Lebigot E, Naïmi M.
    Clin Chem; 2020 Aug 01; 66(8):1115-1117. PubMed ID: 32746465
    [No Abstract] [Full Text] [Related]

  • 4. Studies of urinary organic acid profiles of a patient with dihydrolipoyl dehydrogenase deficiency.
    Kuhara T, Shinka T, Inoue Y, Matsumoto M, Yoshino M, Sakaguchi Y, Matsumoto I.
    Clin Chim Acta; 1983 Sep 30; 133(2):133-40. PubMed ID: 6688766
    [Abstract] [Full Text] [Related]

  • 5. Abnormalities of pyruvate dehydrogenase complex in brain disease.
    Sheu KF, Szabo P, Ko LW, Hinman LM.
    Ann N Y Acad Sci; 1989 Sep 30; 573():378-91. PubMed ID: 2517466
    [No Abstract] [Full Text] [Related]

  • 6. Defect of NADH dehydrogenase in Leigh syndrome.
    Van Erven PM, Fischer JC, Gabreëls FJ, Renier WO, Trijbels JM, Janssen AJ.
    Acta Neurol Scand; 1986 Aug 30; 74(2):167. PubMed ID: 3776463
    [No Abstract] [Full Text] [Related]

  • 7. Cytochrome c oxidase deficiency in three patients with Leigh's disease.
    Di Rocco M, Veneselli E, Ciccone MO, Taccone A, Stroppiano M, Cottafava F.
    J Inherit Metab Dis; 1988 Aug 30; 11 Suppl 2():189-92. PubMed ID: 2846961
    [No Abstract] [Full Text] [Related]

  • 8. Complex I (reduced nicotinamide-adenine dinucleotide-coenzyme Q reductase) deficiency in two patients with probable Leigh syndrome.
    Fujii T, Ito M, Okuno T, Mutoh K, Nishikomori R, Mikawa H.
    J Pediatr; 1990 Jan 30; 116(1):84-7. PubMed ID: 2104930
    [Abstract] [Full Text] [Related]

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  • 11. Mitochondrial encephalomyopathy. Association with an NADH dehydrogenase deficiency.
    van Erven PM, Gabreëls FJ, Ruitenbeek W, Renier WO, Fischer JC.
    Arch Neurol; 1987 Jul 30; 44(7):775-8. PubMed ID: 3593065
    [Abstract] [Full Text] [Related]

  • 12. Pyruvate dehydrogenase activity is not deficient in the brain of three autopsied cases with Leigh disease (subacute necrotizing encephalomyelopathy, SNE).
    Kustermann-Kuhn B, Harzer K, Schröder R, Permanetter W, Peiffer J.
    Hum Genet; 1984 Jul 30; 68(1):51-3. PubMed ID: 6437963
    [Abstract] [Full Text] [Related]

  • 13. Immunochemical study in three patients with cytochrome c oxidase deficiency presenting Leigh's encephalomyelopathy.
    Miyabayashi S, Ito T, Abukawa D, Narisawa K, Tada K, Tanaka M, Ozawa T, Droste M, Kadenbach B.
    J Inherit Metab Dis; 1987 Jul 30; 10(3):289-92. PubMed ID: 2828763
    [No Abstract] [Full Text] [Related]

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  • 15. Cytochrome c oxidase deficiency in Leigh syndrome.
    DiMauro S, Servidei S, Zeviani M, DiRocco M, DeVivo DC, DiDonato S, Uziel G, Berry K, Hoganson G, Johnsen SD.
    Ann Neurol; 1987 Oct 30; 22(4):498-506. PubMed ID: 2829705
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  • 17. Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease).
    Kretzschmar HA, DeArmond SJ, Koch TK, Patel MS, Newth CJ, Schmidt KA, Packman S.
    Pediatrics; 1987 Mar 30; 79(3):370-3. PubMed ID: 3103091
    [Abstract] [Full Text] [Related]

  • 18. [On enzyme defects of the gastrointestinal tract].
    Diwok K.
    Z Arztl Fortbild (Jena); 1969 Jun 01; 63(11):586-90. PubMed ID: 4308889
    [No Abstract] [Full Text] [Related]

  • 19. Cytochrome c oxidase deficiency in subacute necrotizing encephalopathy (Leigh syndrome).
    Hayasaka K, Brown GK, Danks DM, Droste M, Kadenbach B.
    J Inherit Metab Dis; 1989 Jun 01; 12(3):247-56. PubMed ID: 2559245
    [Abstract] [Full Text] [Related]

  • 20. 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 01; 136(1):35-9. PubMed ID: 6894281
    [No Abstract] [Full Text] [Related]

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