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634 related items for PubMed ID: 9621512

  • 1. 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; 43(2):91-100. PubMed ID: 9621512
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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]

  • 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
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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]

  • 7. [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]

  • 8. 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]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. 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 Aug 01; 12(2):136. PubMed ID: 10694918
    [Abstract] [Full Text] [Related]

  • 11. 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 01; 80(1):63-70. PubMed ID: 3597778
    [Abstract] [Full Text] [Related]

  • 12. 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 01; 8(1):39-47. PubMed ID: 1943689
    [Abstract] [Full Text] [Related]

  • 13. Molecular genetics of maple syrup urine disease in the Turkish population.
    Gorzelany K, Dursun A, Coşkun T, Kalkanoğlu-Sivri SH, Gökçay GF, Demirkol M, Feyen O, Wendel U.
    Turk J Pediatr; 2009 Feb 01; 51(2):97-102. PubMed ID: 19480318
    [Abstract] [Full Text] [Related]

  • 14. Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease.
    Henneke M, Flaschker N, Helbling C, Müller M, Schadewaldt P, Gärtner J, Wendel U.
    Hum Mutat; 2003 Nov 01; 22(5):417. PubMed ID: 14517957
    [Abstract] [Full Text] [Related]

  • 15. Deficiency of the E1 beta subunit in the branched-chain alpha-keto acid dehydrogenase complex due to a single base substitution of the intron 5, resulting in two alternatively spliced mRNAs in a patient with maple syrup urine disease.
    Hayashida Y, Mitsubuchi H, Indo Y, Ohta K, Endo F, Wada Y, Matsuda I.
    Biochim Biophys Acta; 1994 Feb 22; 1225(3):317-25. PubMed ID: 8312380
    [Abstract] [Full Text] [Related]

  • 16. Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations.
    Fisher CW, Fisher CR, Chuang JL, Lau KS, Chuang DT, Cox RP.
    Am J Hum Genet; 1993 Feb 22; 52(2):414-24. PubMed ID: 8430702
    [Abstract] [Full Text] [Related]

  • 17. A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
    Odièvre MH, Chretien D, Munnich A, Robinson BH, Dumoulin R, Masmoudi S, Kadhom N, Rötig A, Rustin P, Bonnefont JP.
    Hum Mutat; 2005 Mar 22; 25(3):323-4. PubMed ID: 15712224
    [Abstract] [Full Text] [Related]

  • 18. The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms.
    Lee PL, Gelbart T, West C, Halloran C, Beutler E.
    Blood Cells Mol Dis; 1998 Jun 22; 24(2):199-215. PubMed ID: 9642100
    [Abstract] [Full Text] [Related]

  • 19. Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation.
    Brodtkorb E, Strand J, Backe PH, Lund AM, Bjørås M, Rootwelt T, Rootwelt H, Woldseth B, Eide L.
    Mol Genet Metab; 2010 Aug 22; 100(4):324-32. PubMed ID: 20570198
    [Abstract] [Full Text] [Related]

  • 20. Identification of a novel homozygous mutation (S144I) in a Malay patient with maple syrup urine disease.
    Ali EZ, Yunus ZM, Desa NM, Hock NL.
    J Pediatr Endocrinol Metab; 2013 Aug 22; 26(9-10):975-80. PubMed ID: 23729548
    [Abstract] [Full Text] [Related]

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