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PUBMED FOR HANDHELDS

Journal Abstract Search

144 related items for PubMed ID: 8199595

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  • 10. 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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  • 12. Molecular genetic characterization of an X-linked form of Leigh's syndrome.
    Matthews PM, Marchington DR, Squier M, Land J, Brown RM, Brown GK.
    Ann Neurol; 1993 Jun; 33(6):652-5. PubMed ID: 8498846
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  • 13. 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
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  • 14. Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit.
    Hemalatha SG, Kerr DS, Wexler ID, Lusk MM, Kaung M, Du Y, Kolli M, Schelper RL, Patel MS.
    Hum Mol Genet; 1995 Feb; 4(2):315-8. PubMed ID: 7757088
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  • 15. 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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  • 16. Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain.
    Shany E, Saada A, Landau D, Shaag A, Hershkovitz E, Elpeleg ON.
    Biochem Biophys Res Commun; 1999 Aug 19; 262(1):163-6. PubMed ID: 10448086
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  • 19. 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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