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Journal Abstract Search

235 related items for PubMed ID: 7573035

  • 1. An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein.
    Takakubo F, Cartwright P, Hoogenraad N, Thorburn DR, Collins F, Lithgow T, Dahl HH.
    Am J Hum Genet; 1995 Oct; 57(4):772-80. PubMed ID: 7573035
    [Abstract] [Full Text] [Related]

  • 2. X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation.
    Dahl HH, Hansen LL, Brown RM, Danks DM, Rogers JG, Brown GK.
    J Inherit Metab Dis; 1992 Oct; 15(6):835-47. PubMed ID: 1293379
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  • 8. 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 Oct; 15(3):209-19. PubMed ID: 10679936
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  • 9. Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene.
    Dahl HH, Brown GK, Brown RM, Hansen LL, Kerr DS, Wexler ID, Patel MS, De Meirleir L, Lissens W, Chun K.
    Hum Mutat; 1992 Oct; 1(2):97-102. PubMed ID: 1301207
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  • 10. 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; 104(4):507-16. PubMed ID: 21914562
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  • 11. Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1 alpha subunit.
    Dahl HH, Brown GK.
    Hum Mutat; 1994 Dec; 3(2):152-5. PubMed ID: 8199595
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  • 12. Neurodevelopmental abnormalities and lactic acidosis in a girl with a 20-bp deletion in the X-linked pyruvate dehydrogenase E1 alpha subunit gene.
    Matthews PM, Brown RM, Otero L, Marchington D, Leonard JV, Brown GK.
    Neurology; 1993 Oct; 43(10):2025-30. PubMed ID: 7692352
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  • 13. Pyruvate dehydrogenase deficiency: molecular basis for intrafamilial heterogeneity.
    Fujii T, Van Coster RN, Old SE, Medori R, Winter S, Gubits RM, Matthews PM, Brown RM, Brown GK, Dahl HH.
    Ann Neurol; 1994 Jul; 36(1):83-9. PubMed ID: 8024267
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  • 14. Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency.
    Hansen LL, Brown GK, Kirby DM, Dahl HH.
    J Inherit Metab Dis; 1991 Jul; 14(2):140-51. PubMed ID: 1909401
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  • 15. Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha gene.
    Dahl HH, Maragos C, Brown RM, Hansen LL, Brown GK.
    Am J Hum Genet; 1990 Aug; 47(2):286-93. PubMed ID: 2378353
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  • 16. Characterization of point mutations in patients with pyruvate dehydrogenase deficiency: role of methionine-181, proline-188, and arginine-349 in the alpha subunit.
    Tripatara A, Korotchkina LG, Patel MS.
    Arch Biochem Biophys; 1999 Jul 01; 367(1):39-50. PubMed ID: 10375397
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  • 17. Pyruvate dehydrogenase deficiency caused by a four-nucleotide insertion in the E1 alpha subunit gene.
    Naito E, Ito M, Yokota I, Matsuda J, Yara A, Kuroda Y.
    Hum Mol Genet; 1994 Jul 01; 3(7):1193-4. PubMed ID: 7981697
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  • 18. Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 alpha subunit.
    Hansen LL, Horn N, Dahl HH, Kruse TA.
    Hum Mol Genet; 1994 Jun 01; 3(6):1021-2. PubMed ID: 7545958
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  • 19. A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
    Odièvre MH, Chretien D, Munnich A, Robinson BH, Dumoulin R, Masmoudi S, Kadhom N, Rötig A, Rustin P, Bonnefont JP.
    Hum Mutat; 2005 Mar 01; 25(3):323-4. PubMed ID: 15712224
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  • 20. A four-nucleotide insertion at the E1 alpha gene in a patient with pyruvate dehydrogenase deficiency.
    Endo H, Miyabayashi S, Tada K, Narisawa K.
    J Inherit Metab Dis; 1991 Mar 01; 14(5):793-9. PubMed ID: 1779625
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