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Journal Abstract Search

230 related items for PubMed ID: 7782943

  • 1. 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; 125(6 Suppl):1766S-1772S. PubMed ID: 7782943
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  • 3. 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
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  • 4. 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
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  • 5. Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex.
    Fisher CR, Chuang JL, Cox RP, Fisher CW, Star RA, Chuang DT.
    J Clin Invest; 1991 Sep; 88(3):1034-7. PubMed ID: 1885764
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  • 6. Impaired assembly of E1 decarboxylase of the branched-chain alpha-ketoacid dehydrogenase complex in type IA maple syrup urine disease.
    Wynn RM, Davie JR, Chuang JL, Cote CD, Chuang DT.
    J Biol Chem; 1998 May 22; 273(21):13110-8. PubMed ID: 9582350
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  • 7. Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population.
    Fisher CR, Fisher CW, Chuang DT, Cox RP.
    Am J Hum Genet; 1991 Aug 22; 49(2):429-34. PubMed ID: 1867199
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  • 8. [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 22; 41(5):484-91. PubMed ID: 8350511
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  • 10. 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 22; 8(1):49-63. PubMed ID: 1943690
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  • 11. 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 22; 30():245-63. PubMed ID: 2403034
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  • 13. 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 22; 87(5):1862-6. PubMed ID: 2022752
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  • 14. Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex.
    Chuang JL, Fisher CR, Cox RP, Chuang DT.
    Am J Hum Genet; 1994 Aug 22; 55(2):297-304. PubMed ID: 8037208
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  • 15. 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
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  • 17. Isolation and sequencing of a cDNA encoding the decarboxylase (E1)alpha precursor of bovine branched-chain alpha-keto acid dehydrogenase complex. Expression of E1 alpha mRNA and subunit in maple-syrup-urine-disease and 3T3-L1 cells.
    Hu CW, Lau KS, Griffin TA, Chuang JL, Fisher CW, Cox RP, Chuang DT.
    J Biol Chem; 1988 Jun 25; 263(18):9007-14. PubMed ID: 3379058
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  • 18. 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 25; 80(1):63-70. PubMed ID: 3597778
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  • 19. 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 25; 86(1):242-7. PubMed ID: 2365818
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  • 20. 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 25; 75(1):79-90. PubMed ID: 11825067
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