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Journal Abstract Search

207 related items for PubMed ID: 8460066

  • 1. E1 pyruvate dehydrogenase deficiency in a child with motor neuropathy.
    Bonne G, Benelli C, De Meirleir L, Lissens W, Chaussain M, Diry M, Clot JP, Ponsot G, Geoffroy V, Leroux JP.
    Pediatr Res; 1993 Mar; 33(3):284-8. PubMed ID: 8460066
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  • 2. Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia.
    Naito E, Ito M, Takeda E, Yokota I, Yoshijima S, Kuroda Y.
    Pediatr Res; 1994 Sep; 36(3):340-6. PubMed ID: 7808831
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  • 3. Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region.
    Naito E, Ito M, Yokota I, Saijo T, Matsuda J, Ogawa Y, Kitamura S, Takada E, Horii Y, Kuroda Y.
    Biochim Biophys Acta; 2002 Oct 09; 1588(1):79-84. PubMed ID: 12379317
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  • 4. A mutation in the E1 alpha subunit of pyruvate dehydrogenase associated with variable expression of pyruvate dehydrogenase complex deficiency.
    Wexler ID, Hemalatha SG, Liu TC, Berry SA, Kerr DS, Patel MS.
    Pediatr Res; 1992 Aug 09; 32(2):169-74. PubMed ID: 1508605
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  • 5. Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency.
    Naito E, Ito M, Yokota I, Saijo T, Ogawa Y, Kuroda Y.
    J Neurol Sci; 2002 Sep 15; 201(1-2):33-7. PubMed ID: 12163191
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  • 6. Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
    Lissens W, De Meirleir L, Seneca S, Liebaers I, Brown GK, Brown RM, Ito M, Naito E, Kuroda Y, Kerr DS, Wexler ID, Patel MS, Robinson BH, Seyda A.
    Hum Mutat; 2000 Sep 15; 15(3):209-19. PubMed ID: 10679936
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  • 8. Concomitant administration of sodium dichloroacetate and thiamine in west syndrome caused by thiamine-responsive pyruvate dehydrogenase complex deficiency.
    Naito E, Ito M, Yokota I, Saijo T, Chen S, Maehara M, Kuroda Y.
    J Neurol Sci; 1999 Dec 01; 171(1):56-9. PubMed ID: 10567050
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  • 14. 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 01; 104(4):507-16. PubMed ID: 21914562
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  • 15. Differential effect of DCA treatment on the pyruvate dehydrogenase complex in patients with severe PDHC deficiency.
    Fouque F, Brivet M, Boutron A, Vequaud C, Marsac C, Zabot MT, Benelli C.
    Pediatr Res; 2003 May 01; 53(5):793-9. PubMed ID: 12621116
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  • 16. Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency.
    Naito E, Ito M, Yokota I, Saijo T, Matsuda J, Osaka H, Kimura S, Kuroda Y.
    J Inherit Metab Dis; 1997 Aug 01; 20(4):539-48. PubMed ID: 9266390
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