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Journal Abstract Search

216 related items for PubMed ID: 3927283

  • 1. First trimester diagnosis of Lesch-Nyhan syndrome: applications to other disorders of purine metabolism.
    Stout JT, Jackson LG, Caskey CT.
    Prenat Diagn; 1985; 5(3):183-9. PubMed ID: 3927283
    [Abstract] [Full Text] [Related]

  • 2. A pitfall in the prenatal diagnosis of Lesch-Nyhan syndrome by chorionic villus sampling.
    Page T, Broock RL.
    Prenat Diagn; 1990 Mar; 10(3):153-7. PubMed ID: 2343029
    [Abstract] [Full Text] [Related]

  • 3. Prenatal diagnosis of Lesch-Nyhan syndrome: experience with three fetuses at risk.
    Zoref-Shani E, Bromberg Y, Goldman B, Shaki R, Barkai G, Legum C, Sperling O.
    Prenat Diagn; 1989 Sep; 9(9):657-61. PubMed ID: 2798351
    [Abstract] [Full Text] [Related]

  • 4. Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice.
    Wu CL, Melton DW.
    Nat Genet; 1993 Mar; 3(3):235-40. PubMed ID: 8485579
    [Abstract] [Full Text] [Related]

  • 5. Inherited disorders of purine metabolism--underlying molecular mechanisms.
    Gutensohn W.
    Klin Wochenschr; 1984 Oct 15; 62(20):953-62. PubMed ID: 6209448
    [Abstract] [Full Text] [Related]

  • 6. Overproduction of uric acid in hypoxanthine-guanine phosphoribosyltransferase deficiency. Contribution by impaired purine salvage.
    Edwards NL, Recker D, Fox IH.
    J Clin Invest; 1979 May 15; 63(5):922-30. PubMed ID: 447834
    [Abstract] [Full Text] [Related]

  • 7. Genetic defects in human purine and pyrimidine metabolism.
    Boss GR, Seegmiller JE.
    Annu Rev Genet; 1982 May 15; 16():297-328. PubMed ID: 6297375
    [No Abstract] [Full Text] [Related]

  • 8. Inherited purine enzyme deficiencies: prenatal diagnosis and heterozygote detection.
    de Bruyn CH.
    Clin Biochem; 1983 Feb 15; 16(1):38-42. PubMed ID: 6407779
    [Abstract] [Full Text] [Related]

  • 9. [Animal models for abnormal purine metabolism].
    Morisaki T.
    Nihon Rinsho; 2003 Jan 15; 61 Suppl 1():482-6. PubMed ID: 12629770
    [No Abstract] [Full Text] [Related]

  • 10. Failure to diagnose Lesch-Nyhan syndrome by first trimester chorionic villus sampling.
    Gruber A, Zeitune M, Fejgin M.
    Prenat Diagn; 1989 Jun 15; 9(6):452-3. PubMed ID: 2762241
    [No Abstract] [Full Text] [Related]

  • 11. Uric acid metabolism in man.
    Balis ME.
    Adv Clin Chem; 1976 Jun 15; 18():213-46. PubMed ID: 176879
    [No Abstract] [Full Text] [Related]

  • 12. Early prenatal diagnosis of inherited severe immunodeficiencies linked to enzyme deficiencies.
    Pérignon JL, Durandy A, Peter MO, Freycon F, Dumez Y, Griscelli C.
    J Pediatr; 1987 Oct 15; 111(4):595-8. PubMed ID: 3116192
    [No Abstract] [Full Text] [Related]

  • 13. Heberden oration 1979: human aberrations of purine metabolism and their significance for rheumatology.
    Seegmiller JE.
    Ann Rheum Dis; 1980 Apr 15; 39(2):103-17. PubMed ID: 6247984
    [No Abstract] [Full Text] [Related]

  • 14. Prenatal diagnosis by enzyme analysis in 15 pregnancies at risk for the Lesch-Nyhan syndrome.
    Graham GW, Aitken DA, Connor JM.
    Prenat Diagn; 1996 Jul 15; 16(7):647-51. PubMed ID: 8843475
    [Abstract] [Full Text] [Related]

  • 15. Approaches to gene therapy in disorders of purine metabolism.
    Wolff JA, Friedmann T.
    Rheum Dis Clin North Am; 1988 Aug 15; 14(2):459-77. PubMed ID: 3051160
    [Abstract] [Full Text] [Related]

  • 16. [Hereditary anomalies of purine metabolism. Current biochemical aspects].
    Perignon JL, Cartier P.
    Arch Fr Pediatr; 1980 Oct 15; 37(8):487-90. PubMed ID: 6255885
    [No Abstract] [Full Text] [Related]

  • 17. Utilization of purines by an HPRT variant in an intelligent, nonmutilative patient with features of the Lesch-Nyhan syndrome.
    Bakay B, Nissinen E, Sweetman L, Francke U, Nyhan WL.
    Pediatr Res; 1979 Dec 15; 13(12):1365-70. PubMed ID: 523196
    [Abstract] [Full Text] [Related]

  • 18. Prenatal diagnosis of Lesch-Nyhan syndrome by purine analysis of amniotic fluid and cordocentesis.
    Mateos FA, Puig JG, Ramos TH, Jiménez ML, Romera NM, González AG.
    Adv Exp Med Biol; 1991 Dec 15; 309B():47-50. PubMed ID: 1781404
    [No Abstract] [Full Text] [Related]

  • 19. Lesch-Nyhan syndrome: the synthesis of inosine 5'-phosphate in the hypoxanthine-guanine phosphoribosyltransferase-deficient erythrocyte by alternate biochemical pathways.
    Lowy BA, Williams MK.
    Pediatr Res; 1977 May 15; 11(5):691-4. PubMed ID: 870876
    [Abstract] [Full Text] [Related]

  • 20. EHNA is a poor inhibitor of deoxyadenosine catabolism in cultured human lymphocytes.
    Goday A, Simmonds HA, Webster DR, Morris GS.
    Rev Esp Fisiol; 1985 Mar 15; 41(1):49-54. PubMed ID: 3923578
    [Abstract] [Full Text] [Related]

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