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147 related items for PubMed ID: 7584124

  • 1. 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
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  • 2. [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
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  • 3. 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
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  • 4. 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
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  • 5. 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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  • 9. Maple syrup urine disease: analysis of branched chain ketoacid decarboxylation in cultured fibroblasts.
    Wendel U, Wentrup H, Rüdiger HW.
    Pediatr Res; 1975 Sep; 9(9):709-17. PubMed ID: 1202420
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  • 12. 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
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  • 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
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  • 14. 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
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  • 16. Maple syrup urine disease in the Austronesian aboriginal tribe Paiwan of Taiwan: a novel DBT (E2) gene 4.7 kb founder deletion caused by a nonhomologous recombination between LINE-1 and Alu and the carrier-frequency determination.
    Chi CS, Tsai CR, Chen LH, Lee HF, Mak BS, Yang SH, Wang TY, Shu SG, Chen CH.
    Eur J Hum Genet; 2003 Dec; 11(12):931-6. PubMed ID: 14508502
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  • 19. Heterogeneity of mutations in maple syrup urine disease (MSUD): screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complex.
    Nobukuni Y, Mitsubuchi H, Hayashida Y, Ohta K, Indo Y, Ichiba Y, Endo F, Matsuda I.
    Biochim Biophys Acta; 1993 Nov 25; 1225(1):64-70. PubMed ID: 8161368
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