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Journal Abstract Search

126 related items for PubMed ID: 9540846

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  • 4. Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient.
    Liu TC, Kim H, Arizmendi C, Kitano A, Patel MS.
    Proc Natl Acad Sci U S A; 1993 Jun 01; 90(11):5186-90. PubMed ID: 8506365
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  • 6. Reconstitution of mammalian pyruvate dehydrogenase and 2-oxoglutarate dehydrogenase complexes: analysis of protein X involvement and interaction of homologous and heterologous dihydrolipoamide dehydrogenases.
    Sanderson SJ, Khan SS, McCartney RG, Miller C, Lindsay JG.
    Biochem J; 1996 Oct 01; 319 ( Pt 1)(Pt 1):109-16. PubMed ID: 8870656
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  • 8. Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity.
    Cameron JM, Levandovskiy V, Mackay N, Raiman J, Renaud DL, Clarke JT, Feigenbaum A, Elpeleg O, Robinson BH.
    Am J Med Genet A; 2006 Jul 15; 140(14):1542-52. PubMed ID: 16770810
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  • 10. 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 15; 104(1):65-9. PubMed ID: 6418873
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  • 11. 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
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  • 12. Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency.
    Cerna L, Wenchich L, Hansiková H, Kmoch S, Peskova K, Chrastina P, Brynda J, Zeman J.
    Med Sci Monit; 2001 Jun 27; 7(6):1319-25. PubMed ID: 11687750
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  • 16. 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
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  • 17. Friedreich ataxia. II. Normal kinetics of lipoamide dehydrogenase.
    Stumpf DA, Parks JK.
    Neurology; 1979 Jun 27; 29(6):820-6. PubMed ID: 221857
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