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Journal Abstract Search

244 related items for PubMed ID: 9546032

  • 1. 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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  • 6. 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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  • 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
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  • 8. 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
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  • 10. 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
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  • 11. 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
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  • 13. 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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  • 14. 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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  • 15. Natural osmolyte trimethylamine N-oxide corrects assembly defects of mutant branched-chain alpha-ketoacid decarboxylase in maple syrup urine disease.
    Song JL, Chuang DT.
    J Biol Chem; 2001 Oct 26; 276(43):40241-6. PubMed ID: 11507102
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  • 16. 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 Oct 26; 30():245-63. PubMed ID: 2403034
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  • 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 Oct 26; 15(2):181-7. PubMed ID: 1356170
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  • 18. E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype.
    Chuang JL, Cox RP, Chuang DT.
    J Clin Invest; 1997 Aug 01; 100(3):736-44. PubMed ID: 9239422
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  • 19. 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 01; 75(1):79-90. PubMed ID: 11825067
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  • 20. Biochemical basis of type IB (E1beta ) mutations in maple syrup urine disease. A prevalent allele in patients from the Druze kindred in Israel.
    Wynn RM, Chuang JL, Sansaricq C, Mandel H, Chuang DT.
    J Biol Chem; 2001 Sep 28; 276(39):36550-6. PubMed ID: 11448970
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