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Journal Abstract Search

137 related items for PubMed ID: 3270867

  • 1. [Maple syrup urine disease].
    Matsuda I.
    Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):585-8. PubMed ID: 3270867
    [No Abstract] [Full Text] [Related]

  • 2. Maple syrup urine disease 1954 to 1993.
    Peinemann F, Danner DJ.
    J Inherit Metab Dis; 1994 Apr; 17(1):3-15. PubMed ID: 8051937
    [No Abstract] [Full Text] [Related]

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

  • 4. [Maple syrup urine disease: molecular pathology of the branched chain alpha-keto acid dehydrogenase complex].
    Nobukuni Y, Mitsubuchi H, Indo Y, Endo F, Matsuda I.
    Seikagaku; 1992 Feb; 64(2):67-82. PubMed ID: 1593184
    [No Abstract] [Full Text] [Related]

  • 5. [Maple syrup urine disease].
    Indo Y, Matsuda I.
    Ryoikibetsu Shokogun Shirizu; 1998 Feb; (18 Pt 1):201-4. PubMed ID: 9590028
    [No Abstract] [Full Text] [Related]

  • 6. Molecular genetic basis for inherited human disorders of branched-chain alpha-keto acid dehydrogenase complex.
    Danner DJ, Litwer S, Herring WJ, Elsas LJ.
    Ann N Y Acad Sci; 1989 Feb; 573():369-77. PubMed ID: 2699404
    [No Abstract] [Full Text] [Related]

  • 7. [Maple syrup urine disease].
    Indo Y.
    Nihon Rinsho; 2002 Apr; 60 Suppl 4():783-7. PubMed ID: 12013999
    [No Abstract] [Full Text] [Related]

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  • 10. Diagnosis and mutational analysis of maple syrup urine disease using cell cultures.
    Chuang JL, Chuang DT.
    Methods Enzymol; 2000 Apr; 324():413-23. PubMed ID: 10989449
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  • 12. Genetic defects in E3 component of alpha-keto acid dehydrogenase complexes.
    Patel MS, Hong YS, Kerr DS.
    Methods Enzymol; 2000 Apr; 324():453-64. PubMed ID: 10989452
    [No Abstract] [Full Text] [Related]

  • 13. Maple syrup urine disease in Poll Shorthorn calves.
    Healy PJ, Dennis JA, Harper PA, Graham R, Reuter RE.
    Aust Vet J; 1992 Jun; 69(6):143-4. PubMed ID: 1642599
    [No Abstract] [Full Text] [Related]

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  • 15. Targeting E3 component of alpha-keto acid dehydrogenase complexes.
    Johnson MT, Yang HS, Patel MS.
    Methods Enzymol; 2000 Jun; 324():465-76. PubMed ID: 10989453
    [No Abstract] [Full Text] [Related]

  • 16. 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 Jun; 43(2):91-100. PubMed ID: 9621512
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  • 17. A structural abnormality of E1 component of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease.
    Indo Y, Kitano A, Akaboshi I, Endo F, Matsuda I.
    J Inherit Metab Dis; 1987 Jun; 10(3):281-3. PubMed ID: 3123794
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  • 20. 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]

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