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Journal Abstract Search

221 related items for PubMed ID: 1551669

  • 1. Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit.
    De Meirleir L, Lissens W, Vamos E, Liebaers I.
    Hum Genet; 1992 Mar; 88(6):649-52. PubMed ID: 1551669
    [Abstract] [Full Text] [Related]

  • 2. Characterization of two cDNA clones for pyruvate dehydrogenase E1 beta subunit and its regulation in tricarboxylic acid cycle-deficient fibroblast.
    Huh TL, Casazza JP, Huh JW, Chi YT, Song BJ.
    J Biol Chem; 1990 Aug 05; 265(22):13320-6. PubMed ID: 2376596
    [Abstract] [Full Text] [Related]

  • 3. Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift.
    Endo H, Hasegawa K, Narisawa K, Tada K, Kagawa Y, Ohta S.
    Am J Hum Genet; 1989 Mar 05; 44(3):358-64. PubMed ID: 2537010
    [Abstract] [Full Text] [Related]

  • 4. Characterization of a point mutation in the pyruvate dehydrogenase E1 alpha gene from two boys with primary lactic acidaemia.
    Awata H, Endo F, Tanoue A, Kitano A, Matsuda I.
    J Inherit Metab Dis; 1994 Mar 05; 17(2):189-95. PubMed ID: 7967473
    [Abstract] [Full Text] [Related]

  • 5. 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 Mar 05; 15(6):835-47. PubMed ID: 1293379
    [Abstract] [Full Text] [Related]

  • 6. Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein.
    Ito M, Huq AH, Naito E, Saijo T, Takeda E, Kuroda Y.
    J Inherit Metab Dis; 1992 Mar 05; 15(6):848-56. PubMed ID: 1338114
    [Abstract] [Full Text] [Related]

  • 7. 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 05; 15(3):209-19. PubMed ID: 10679936
    [Abstract] [Full Text] [Related]

  • 8. Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene.
    Chun K, MacKay N, Petrova-Benedict R, Robinson BH.
    Am J Hum Genet; 1991 Aug 05; 49(2):414-20. PubMed ID: 1907799
    [Abstract] [Full Text] [Related]

  • 9. 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 05; 2(4):449-54. PubMed ID: 8504306
    [Abstract] [Full Text] [Related]

  • 10. Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.
    Lissens W, Vreken P, Barth PG, Wijburg FA, Ruitenbeek W, Wanders RJ, Seneca S, Liebaers I, De Meirleir L.
    Eur J Pediatr; 1999 Oct 05; 158(10):853-7. PubMed ID: 10486093
    [Abstract] [Full Text] [Related]

  • 11. Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.
    Chun K, MacKay N, Petrova-Benedict R, Federico A, Fois A, Cole DE, Robertson E, Robinson BH.
    Am J Hum Genet; 1995 Mar 05; 56(3):558-69. PubMed ID: 7887409
    [Abstract] [Full Text] [Related]

  • 12. 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 05; 36(6):707-12. PubMed ID: 7898978
    [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 05; 3(6):1021-2. PubMed ID: 7545958
    [No Abstract] [Full Text] [Related]

  • 14. 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 Jun 05; 7(1):46-51. PubMed ID: 8664900
    [Abstract] [Full Text] [Related]

  • 15. Pyruvate dehydrogenase deficiency due to a mutation of the E1 alpha subunit.
    de Meirleir LJ, Lissens W, Vamos E, Liebaers I.
    J Inherit Metab Dis; 1991 Jun 05; 14(3):301-4. PubMed ID: 1770778
    [No Abstract] [Full Text] [Related]

  • 16. Sequential deletion of C-terminal amino acids of the E(1)alpha component of the pyruvate dehydrogenase (PDH) complex leads to reduced steady-state levels of functional E(1)alpha(2)beta(2) tetramers: implications for patients with PDH deficiency.
    Seyda A, McEachern G, Haas R, Robinson BH.
    Hum Mol Genet; 2000 Apr 12; 9(7):1041-8. PubMed ID: 10767328
    [Abstract] [Full Text] [Related]

  • 17. Congenital lactic acidosis: evaluation of the properties of the a199t natural variant of human pyruvate dehydrogenase e1alpha by in vitro mutation.
    Wu YG, Widjaja SL, Huang CY, Li W, Nixon PF, Duggleby RG.
    Mol Genet Metab; 2001 Mar 12; 72(3):269-72. PubMed ID: 11243735
    [Abstract] [Full Text] [Related]

  • 18. Unilateral periventricular leukomalacia in association with pyruvate dehydrogenase deficiency.
    Sharma R, Sharrard MJ, Connolly DJ, Mordekar SR.
    Dev Med Child Neurol; 2012 May 12; 54(5):469-71. PubMed ID: 21895644
    [Abstract] [Full Text] [Related]

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

  • 20. 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 12; 3(7):1193-4. PubMed ID: 7981697
    [No Abstract] [Full Text] [Related]

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