These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

212 related articles for article (PubMed ID: 8051937)

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

  • 22. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Molecular heterogeneity for bovine maple syrup urine disease.
    Healy PJ; Dennis JA
    Anim Genet; 1994 Oct; 25(5):329-32. PubMed ID: 7818167
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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; 15(2):181-7. PubMed ID: 1356170
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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; 263(18):9007-14. PubMed ID: 3379058
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Molecular genetic characterization of maple syrup urine disease in European families.
    Peinemann F; Wendel U; Danner DJ
    Biochem Med Metab Biol; 1993 Dec; 50(3):338-45. PubMed ID: 8123297
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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; 1225(1):64-70. PubMed ID: 8161368
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Maple syrup urine disease as a cause of spongiform encephalopathy in calves.
    Harper PA; Healy PJ; Dennis JA
    Vet Rec; 1986 Jul; 119(3):62-5. PubMed ID: 3529596
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Premature translation termination of the pre-E1 alpha subunit of the branched chain alpha-ketoacid dehydrogenase as a cause of maple syrup urine disease in Polled Hereford calves.
    Zhang B; Healy PJ; Zhao Y; Crabb DW; Harris RA
    J Biol Chem; 1990 Feb; 265(5):2425-7. PubMed ID: 2303405
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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; 273(21):13110-8. PubMed ID: 9582350
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Gene preference in maple syrup urine disease.
    Nellis MM; Danner DJ
    Am J Hum Genet; 2001 Jan; 68(1):232-7. PubMed ID: 11112664
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Stable correction of maple syrup urine disease in cells from a Mennonite patient by retroviral-mediated gene transfer.
    Koyata H; Cox RP; Chuang DT
    Biochem J; 1993 Nov; 295 ( Pt 3)(Pt 3):635-9. PubMed ID: 8240269
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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; 49(2):429-34. PubMed ID: 1867199
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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; 52(2):414-24. PubMed ID: 8430702
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population.
    Edelmann L; Wasserstein MP; Kornreich R; Sansaricq C; Snyderman SE; Diaz GA
    Am J Hum Genet; 2001 Oct; 69(4):863-8. PubMed ID: 11509994
    [TBL] [Abstract][Full Text] [Related]  

  • 40. cDNA cloning of the E1 alpha subunit of the branched-chain alpha-keto acid dehydrogenase and elucidation of a molecular basis for maple syrup urine disease.
    Zhang B; Kuntz MJ; Goodwin GW; Edenberg HJ; Crabb DW; Harris RA
    Ann N Y Acad Sci; 1989; 573():130-6. PubMed ID: 2634344
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.