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Journal Abstract Search

212 related items for PubMed ID: 1508605

  • 1. 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; 32(2):169-74. PubMed ID: 1508605
    [Abstract] [Full Text] [Related]

  • 2. Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1 alpha subunit.
    Dahl HH, Brown GK.
    Hum Mutat; 1994 Aug; 3(2):152-5. PubMed ID: 8199595
    [No Abstract] [Full Text] [Related]

  • 3. 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; 25(3):323-4. PubMed ID: 15712224
    [Abstract] [Full Text] [Related]

  • 4. 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 Mar; 15(3):209-19. PubMed ID: 10679936
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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 Jul 01; 1(2):97-102. PubMed ID: 1301207
    [Abstract] [Full Text] [Related]

  • 7. Analysis of exonic mutations leading to exon skipping in patients with pyruvate dehydrogenase E1 alpha deficiency.
    Cardozo AK, De Meirleir L, Liebaers I, Lissens W.
    Pediatr Res; 2000 Dec 01; 48(6):748-53. PubMed ID: 11102541
    [Abstract] [Full Text] [Related]

  • 8. 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 01; 36(1):83-9. PubMed ID: 8024267
    [Abstract] [Full Text] [Related]

  • 9. 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 01; 57(4):772-80. PubMed ID: 7573035
    [Abstract] [Full Text] [Related]

  • 10. Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex.
    Chun K, MacKay N, Petrova-Benedict R, Robinson BH.
    Hum Mol Genet; 1993 Apr 01; 2(4):449-54. PubMed ID: 8504306
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. 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 19; 104(4):507-16. PubMed ID: 21914562
    [Abstract] [Full Text] [Related]

  • 13. 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 19; 3(6):1021-2. PubMed ID: 7545958
    [No Abstract] [Full Text] [Related]

  • 14. A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1.
    Brown RM, Head RA, Boubriak II, Leonard JV, Brown GK.
    Hum Mutat; 2003 Dec 19; 22(6):496-7. PubMed ID: 14635113
    [Abstract] [Full Text] [Related]

  • 15. 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 19; 33(3):284-8. PubMed ID: 8460066
    [Abstract] [Full Text] [Related]

  • 16. 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 19; 36(3):340-6. PubMed ID: 7808831
    [Abstract] [Full Text] [Related]

  • 17. Arginine 302 mutations in the pyruvate dehydrogenase E1alpha subunit gene: identification of further patients and in vitro demonstration of pathogenicity.
    Otero LJ, Brown RM, Brown GK.
    Hum Mutat; 1998 Sep 19; 12(2):114-21. PubMed ID: 9671272
    [Abstract] [Full Text] [Related]

  • 18. 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 Sep 19; 15(6):835-47. PubMed ID: 1293379
    [Abstract] [Full Text] [Related]

  • 19. 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 19; 36(6):707-12. PubMed ID: 7898978
    [Abstract] [Full Text] [Related]

  • 20. Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.
    Lissens W, De Meirleir L, Seneca S, Benelli C, Marsac C, Poll-The BT, Briones P, Ruitenbeek W, van Diggelen O, Chaigne D, Ramaekers V, Liebaers I.
    Hum Mutat; 1996 Dec 19; 7(1):46-51. PubMed ID: 8664900
    [Abstract] [Full Text] [Related]

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