These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

831 related items for PubMed ID: 15712224

  • 1. 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]

  • 2. 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]

  • 3. Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.
    Tsuruta M, Mitsubuchi H, Mardy S, Miura Y, Hayashida Y, Kinugasa A, Ishitsu T, Matsuda I, Indo Y.
    J Hum Genet; 1998 Aug 19; 43(2):91-100. PubMed ID: 9621512
    [Abstract] [Full Text] [Related]

  • 4. 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]

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

  • 6. 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]

  • 7. In situ nucleic acid detection of PDC-E2, BCOADC-E2, OGDC-E2, PDC-E1alpha, BCOADC-E1alpha, OGDC-E1, and the E3 binding protein (protein X) in primary biliary cirrhosis.
    Harada K, Sudo Y, Kono N, Ozaki S, Tsuneyama K, Gershwin ME, Nakanuma Y.
    Hepatology; 1999 Jul 19; 30(1):36-45. PubMed ID: 10385636
    [Abstract] [Full Text] [Related]

  • 8. Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency.
    Okajima K, Korotchkina LG, Prasad C, Rupar T, Phillips JA, Ficicioglu C, Hertecant J, Patel MS, Kerr DS.
    Mol Genet Metab; 2008 Apr 19; 93(4):371-80. PubMed ID: 18164639
    [Abstract] [Full Text] [Related]

  • 9. Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.
    Quintana E, Pineda M, Font A, Vilaseca MA, Tort F, Ribes A, Briones P.
    J Inherit Metab Dis; 2010 Dec 19; 33 Suppl 3():S315-9. PubMed ID: 20652410
    [Abstract] [Full Text] [Related]

  • 10. Pyruvate dehydrogenase E3 binding protein (protein X) deficiency.
    Brown RM, Head RA, Morris AA, Raiman JA, Walter JH, Whitehouse WP, Brown GK.
    Dev Med Child Neurol; 2006 Sep 19; 48(9):756-60. PubMed ID: 16904023
    [Abstract] [Full Text] [Related]

  • 11. Pyruvate dehydrogenase E3 binding protein deficiency.
    Brown RM, Head RA, Brown GK.
    Hum Genet; 2002 Feb 19; 110(2):187-91. PubMed ID: 11935326
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients.
    Chuang JL, Davie JR, Chinsky JM, Wynn RM, Cox RP, Chuang DT.
    J Clin Invest; 1995 Mar 01; 95(3):954-63. PubMed ID: 7883996
    [Abstract] [Full Text] [Related]

  • 14. Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
    Iacobazzi V, Invernizzi F, Baratta S, Pons R, Chung W, Garavaglia B, Dionisi-Vici C, Ribes A, Parini R, Huertas MD, Roldan S, Lauria G, Palmieri F, Taroni F.
    Hum Mutat; 2004 Oct 01; 24(4):312-20. PubMed ID: 15365988
    [Abstract] [Full Text] [Related]

  • 15. [Gene analysis of maple syrup urine disease (MSUD)].
    Mitsubuchi H, Nobukuni Y, Hayashida Y, Ohta K, Indo Y, Akaboshi I, Endo F, Matsuda I.
    Rinsho Byori; 1993 May 01; 41(5):484-91. PubMed ID: 8350511
    [Abstract] [Full Text] [Related]

  • 16. 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 01; 32(2):169-74. PubMed ID: 1508605
    [Abstract] [Full Text] [Related]

  • 17. Maple syrup urine disease caused by a partial deletion in the inner E2 core domain of the branched chain alpha-keto acid dehydrogenase complex due to aberrant splicing. A single base deletion at a 5'-splice donor site of an intron of the E2 gene disrupts the consensus sequence in this region.
    Mitsubuchi H, Nobukuni Y, Akaboshi I, Indo Y, Endo F, Matsuda I.
    J Clin Invest; 1991 Apr 01; 87(4):1207-11. PubMed ID: 2010537
    [Abstract] [Full Text] [Related]

  • 18. Definition of the mutation responsible for maple syrup urine disease in Poll Shorthorns and genotyping Poll Shorthorns and Poll Herefords for maple syrup urine disease alleles.
    Dennis JA, Healy PJ.
    Res Vet Sci; 1999 Aug 01; 67(1):1-6. PubMed ID: 10425233
    [Abstract] [Full Text] [Related]

  • 19. Amino-terminal residues 1-45 of the Escherichia coli pyruvate dehydrogenase complex E1 subunit interact with the E2 subunit and are required for activity of the complex but not for reductive acetylation of the E2 subunit.
    Park YH, Wei W, Zhou L, Nemeria N, Jordan F.
    Biochemistry; 2004 Nov 09; 43(44):14037-46. PubMed ID: 15518552
    [Abstract] [Full Text] [Related]

  • 20. A nonsense mutation (R242X) in the branched-chain alpha-keto acid dehydrogenase E1alpha subunit gene (BCKDHA) as a cause of maple syrup urine disease. Mutations in brief no. 160. Online.
    Chinsky J, Appel M, Almashanu S, Costeas P, Ambulos N, Carmi R.
    Hum Mutat; 1998 Nov 09; 12(2):136. PubMed ID: 10694918
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 42.