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Journal Abstract Search

93 related items for PubMed ID: 2517466

  • 1. Abnormalities of pyruvate dehydrogenase complex in brain disease.
    Sheu KF, Szabo P, Ko LW, Hinman LM.
    Ann N Y Acad Sci; 1989; 573():378-91. PubMed ID: 2517466
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  • 3. 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; 79(3):370-3. PubMed ID: 3103091
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  • 9. Genetic heterogeneity in Leigh syndrome.
    DiMauro S, De Vivo DC.
    Ann Neurol; 1996 Jul; 40(1):5-7. PubMed ID: 8687192
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  • 10. Cytochrome C oxidase-deficient mitochondria in mitochondrial myopathy.
    Haginoya K, Miyabayashi S, Iinuma K, Okino E, Maesaka H, Tada K.
    Pediatr Neurol; 1992 Jul; 8(1):13-8. PubMed ID: 1313674
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  • 11. Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathy.
    De Meirleir L, Lissens W, Benelli C, Ponsot G, Desguerre I, Marsac C, Rodriguez D, Saudubray JM, Poggi F, Liebaers I.
    Pediatr Res; 1994 Dec; 36(6):707-12. PubMed ID: 7898978
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  • 12. 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 Dec; 7 Suppl 2():115-6. PubMed ID: 6434859
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  • 18. Complexities of the pyruvate dehydrogenase complex.
    De Vivo DC.
    Neurology; 1998 Nov; 51(5):1247-9. PubMed ID: 9818840
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  • 19. 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; 74(2):167. PubMed ID: 3776463
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  • 20. 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; 11 Suppl 2():189-92. PubMed ID: 2846961
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