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Journal Abstract Search

331 related items for PubMed ID: 3903643

  • 1. Thiamine response in maple syrup urine disease.
    Fernhoff PM, Lubitz D, Danner DJ, Dembure PP, Schwartz HP, Hillman R, Bier DM, Elsas LJ.
    Pediatr Res; 1985 Oct; 19(10):1011-6. PubMed ID: 3903643
    [Abstract] [Full Text] [Related]

  • 2. The relationship between the branched chain amino acids and their alpha-ketoacids in maple syrup urine disease.
    Snyderman SE, Goldstein F, Sansaricq C, Norton PM.
    Pediatr Res; 1984 Sep; 18(9):851-3. PubMed ID: 6483508
    [Abstract] [Full Text] [Related]

  • 3. Metabolism of branched-chain amino acids in fibroblasts from patients with maple syrup urine disease and other abnormalities of branched-chain ketoacid dehydrogenase activity.
    Yoshida I, Sweetman L, Nyhan WL.
    Pediatr Res; 1986 Feb; 20(2):169-74. PubMed ID: 3080729
    [Abstract] [Full Text] [Related]

  • 4. The role of thiamin in maple syrup urine disease.
    Elsas LJ, Danner DJ.
    Ann N Y Acad Sci; 1982 Feb; 378():404-21. PubMed ID: 7044230
    [No Abstract] [Full Text] [Related]

  • 5. Practical methods to estimate whole body leucine oxidation in maple syrup urine disease.
    Elsas LJ, Ellerine NP, Klein PD.
    Pediatr Res; 1993 May; 33(5):445-51. PubMed ID: 8511017
    [Abstract] [Full Text] [Related]

  • 6. [3 patients with maple syrup urine disease].
    Merinero B, del Valle JA, García MJ, García Miguel MJ, Barrio MI, García Hortelano J, Morales E, González F, García Aparicio J, Sáez Pérez E.
    An Esp Pediatr; 1983 Nov; 19(5):393-400. PubMed ID: 6660657
    [Abstract] [Full Text] [Related]

  • 7. Thiamine-responsive inborn errors of metabolism.
    Duran M, Wadman SK.
    J Inherit Metab Dis; 1985 Nov; 8 Suppl 1():70-5. PubMed ID: 3930844
    [Abstract] [Full Text] [Related]

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

  • 9. Interrelation between the metabolism of L-isoleucine and L-allo-isoleucine in patients with maple syrup urine disease.
    Wendel U, Langenbeck U, Seakins JW.
    Pediatr Res; 1989 Jan; 25(1):11-4. PubMed ID: 2919111
    [Abstract] [Full Text] [Related]

  • 10. In vivo and in vitro response of human branched chain alpha-ketoacid dehydrogenase to thiamine and thiamine pyrophosphate.
    Danner DJ, Wheeler FB, Lemmon SK, Elsas LJ.
    Pediatr Res; 1978 Mar; 12(3):235-8. PubMed ID: 643394
    [No Abstract] [Full Text] [Related]

  • 11. 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 Mar; 30():245-63. PubMed ID: 2403034
    [Abstract] [Full Text] [Related]

  • 12. Maple syrup urine disease: metabolic decompensation monitored by proton magnetic resonance imaging and spectroscopy.
    Felber SR, Sperl W, Chemelli A, Murr C, Wendel U.
    Ann Neurol; 1993 Apr; 33(4):396-401. PubMed ID: 8489211
    [Abstract] [Full Text] [Related]

  • 13. Enzymatic method for branched chain alpha-ketoacid determination: application to rapid analysis of urine and plasma samples from maple syrup urine disease patients.
    Burgos C, Civallero GE, de Kremer RD, Gerez de Burgos NM, Blanco A.
    Acta Physiol Pharmacol Ther Latinoam; 1999 Apr; 49(2):109-17. PubMed ID: 10797848
    [Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. Diagnosis and treatment of maple syrup disease: a study of 36 patients.
    Morton DH, Strauss KA, Robinson DL, Puffenberger EG, Kelley RI.
    Pediatrics; 2002 Jun; 109(6):999-1008. PubMed ID: 12042535
    [Abstract] [Full Text] [Related]

  • 17. Maple syrup urine disease in a Bedouin tribe: pre- and postnatal diagnosis.
    Potashnik R, Carmi R, Sofer S, Bashan N, Abeliovich D.
    Isr J Med Sci; 1987 Aug; 23(8):886-9. PubMed ID: 3679791
    [Abstract] [Full Text] [Related]

  • 18. Sequence of the E1 alpha subunit of branched-chain alpha-ketoacid dehydrogenase in two patients with thiamine-responsive maple syrup urine disease.
    Zhang B, Wappner RS, Brandt IK, Harris RA, Crabb DW.
    Am J Hum Genet; 1990 Apr; 46(4):843-6. PubMed ID: 2316528
    [Abstract] [Full Text] [Related]

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

  • 20. Primary human fibroblasts from a maple syrup urine disease patient undergo apoptosis following exposure to physiological concentrations of branched chain amino acids.
    Jouvet P, Kozma M, Mehmet H.
    Ann N Y Acad Sci; 2000 Apr; 926():116-21. PubMed ID: 11193026
    [Abstract] [Full Text] [Related]

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