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Journal Abstract Search

377 related items for PubMed ID: 8350511

  • 1. [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; 41(5):484-91. PubMed ID: 8350511
    [Abstract] [Full Text] [Related]

  • 2. Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease.
    Nobukuni Y, Mitsubuchi H, Akaboshi I, Indo Y, Endo F, Yoshioka A, Matsuda I.
    J Clin Invest; 1991 May; 87(5):1862-6. PubMed ID: 2022752
    [Abstract] [Full Text] [Related]

  • 3. Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease.
    Nobukuni Y, Mitsubuchi H, Endo F, Akaboshi I, Asaka J, Matsuda I.
    J Clin Invest; 1990 Jul; 86(1):242-7. PubMed ID: 2365818
    [Abstract] [Full Text] [Related]

  • 4. Maple syrup urine disease: domain structure, mutations and exon skipping in the dihydrolipoyl transacylase (E2) component of the branched-chain alpha-keto acid dehydrogenase complex.
    Chuang DT, Fisher CW, Lau KS, Griffin TA, Wynn RM, Cox RP.
    Mol Biol Med; 1991 Feb; 8(1):49-63. PubMed ID: 1943690
    [Abstract] [Full Text] [Related]

  • 5. Molecular defects in the E1 alpha subunit of the branched-chain alpha-ketoacid dehydrogenase complex that cause maple syrup urine disease.
    Zhang B, Zhao Y, Harris RA, Crabb DW.
    Mol Biol Med; 1991 Feb; 8(1):39-47. PubMed ID: 1943689
    [Abstract] [Full Text] [Related]

  • 6. Altered kinetic properties of the branched-chain alpha-keto acid dehydrogenase complex due to mutation of the beta-subunit of the branched-chain alpha-keto acid decarboxylase (E1) component in lymphoblastoid cells derived from patients with maple syrup urine disease.
    Indo Y, Kitano A, Endo F, Akaboshi I, Matsuda I.
    J Clin Invest; 1987 Jul; 80(1):63-70. PubMed ID: 3597778
    [Abstract] [Full Text] [Related]

  • 7. 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; 95(3):954-63. PubMed ID: 7883996
    [Abstract] [Full Text] [Related]

  • 8. 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 Mar; 43(2):91-100. PubMed ID: 9621512
    [Abstract] [Full Text] [Related]

  • 9. 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; 87(4):1207-11. PubMed ID: 2010537
    [Abstract] [Full Text] [Related]

  • 10. Complementation of defective leucine decarboxylation in fibroblasts from a maple syrup urine disease patient by retrovirus-mediated gene transfer.
    Mueller GM, McKenzie LR, Homanics GE, Watkins SC, Robbins PD, Paul HS.
    Gene Ther; 1995 Sep; 2(7):461-8. PubMed ID: 7584124
    [Abstract] [Full Text] [Related]

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  • 12. 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 Sep; 12(2):136. PubMed ID: 10694918
    [Abstract] [Full Text] [Related]

  • 13. Maple syrup urine disease: it has come a long way.
    Chuang DT.
    J Pediatr; 1998 Mar; 132(3 Pt 2):S17-23. PubMed ID: 9546032
    [Abstract] [Full Text] [Related]

  • 14. Evidence of common ancestry for the maple syrup urine disease (MSUD) Y438N allele in non-Mennonite MSUD patients.
    Love-Gregory LD, Grasela J, Hillman RE, Phillips CL.
    Mol Genet Metab; 2002 Jan; 75(1):79-90. PubMed ID: 11825067
    [Abstract] [Full Text] [Related]

  • 15. 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; 67(1):1-6. PubMed ID: 10425233
    [Abstract] [Full Text] [Related]

  • 16. Molecular phenotypes in cultured maple syrup urine disease cells. Complete E1 alpha cDNA sequence and mRNA and subunit contents of the human branched chain alpha-keto acid dehydrogenase complex.
    Fisher CW, Chuang JL, Griffin TA, Lau KS, Cox RP, Chuang DT.
    J Biol Chem; 1989 Feb 25; 264(6):3448-53. PubMed ID: 2914958
    [Abstract] [Full Text] [Related]

  • 17. Gene analysis of Mennonite maple syrup urine disease kindred using primer-specified restriction map modification.
    Mitsubuchi H, Matsuda I, Nobukuni Y, Heidenreich R, Indo Y, Endo F, Mallee J, Segal S.
    J Inherit Metab Dis; 1992 Feb 25; 15(2):181-7. PubMed ID: 1356170
    [Abstract] [Full Text] [Related]

  • 18. Regulation of the branched-chain alpha-ketoacid dehydrogenase and elucidation of a molecular basis for maple syrup urine disease.
    Harris RA, Zhang B, Goodwin GW, Kuntz MJ, Shimomura Y, Rougraff P, Dexter P, Zhao Y, Gibson R, Crabb DW.
    Adv Enzyme Regul; 1990 Feb 25; 30():245-63. PubMed ID: 2403034
    [Abstract] [Full Text] [Related]

  • 19. A T-to-A substitution in the E1 alpha subunit gene of the branched-chain alpha-ketoacid dehydrogenase complex in two cell lines derived from Menonite maple syrup urine disease patients.
    Matsuda I, Nobukuni Y, Mitsubuchi H, Indo Y, Endo F, Asaka J, Harada A.
    Biochem Biophys Res Commun; 1990 Oct 30; 172(2):646-51. PubMed ID: 2241958
    [Abstract] [Full Text] [Related]

  • 20. Molecular basis of maple syrup urine disease and stable correction by retroviral gene transfer.
    Chuang DT, Davie JR, Wynn RM, Chuang JL, Koyata H, Cox RP.
    J Nutr; 1995 Jun 30; 125(6 Suppl):1766S-1772S. PubMed ID: 7782943
    [Abstract] [Full Text] [Related]

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