BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

162 related articles for article (PubMed ID: 8051925)

  • 1. Purine metabolism in Lesch-Nyhan syndrome versus Kelley-Seegmiller syndrome.
    Mateos EA; Puig JG
    J Inherit Metab Dis; 1994; 17(1):138-42. PubMed ID: 8051925
    [No Abstract]   [Full Text] [Related]  

  • 2. [Clinical spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency: study of 12 cases].
    García Puig J; Mateos FA; Jiménez ML; Arcas J; Miranda ME; Oríz Vázquez J
    Med Clin (Barc); 1994 May; 102(18):681-7. PubMed ID: 8028417
    [TBL] [Abstract][Full Text] [Related]  

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

  • 4. [Enzymopathies as a cause of hyperuricemia].
    Eyman E; Kawenoki-Minc E
    Reumatologia; 1977; 15(3):375-81. PubMed ID: 929012
    [No Abstract]   [Full Text] [Related]  

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

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

  • 7. The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism.
    Nyhan WL
    J Inherit Metab Dis; 1997 Jun; 20(2):171-8. PubMed ID: 9211189
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genetic and clinical heterogeneity in hypoxanthine phosphoribosyltransferase deficiencies.
    Burgemeister R; Gutensohn W; Van den Berghe G; Jaeken J
    Adv Exp Med Biol; 1994; 370():331-5. PubMed ID: 7660921
    [No Abstract]   [Full Text] [Related]  

  • 9. Alterations in the activity of hypoxanthine and adenine phosphoribosyltransferase in patients with hyperuricaemia and gout.
    Boyle JA; Greene ML; Seegmiller JE
    Q J Med; 1971 Oct; 40(160):574-5. PubMed ID: 5157418
    [No Abstract]   [Full Text] [Related]  

  • 10. The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.
    Puig JG; Torres RJ; Mateos FA; Ramos TH; Arcas JM; Buño AS; O'Neill P
    Medicine (Baltimore); 2001 Mar; 80(2):102-12. PubMed ID: 11307586
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical and biochemical observations on three cases of hypoxanthine-guanine phosphoribosyltransferase deficiency.
    Bunn DN; Moss IK; Nicholls A; Scott JT; Snaith ML; Watson MR
    Ann Rheum Dis; 1975 Jun; 34(3):249-55. PubMed ID: 1155984
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The spectrum of HGPRT deficiency. Clinical experience based on 20 patients from 16 Spanish families.
    Puig JG; Torres RJ; Mateos FA; Arcas J; Buño A; Pascual-Castroviejo I
    Adv Exp Med Biol; 1998; 431():25-9. PubMed ID: 9598025
    [No Abstract]   [Full Text] [Related]  

  • 13. Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome.
    Arnold WJ; Meade JC; Kelley WN
    J Clin Invest; 1972 Jul; 51(7):1805-12. PubMed ID: 4624352
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Lesch-Nyhan disease studied in intact fibroblasts].
    Lartigau MT; Martínez A; Bakay B; Page T; Nyhan WL
    An Esp Pediatr; 1983 May; 18(5):394-8. PubMed ID: 6614674
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Diminished affinity for purine substrates as a basis for gout with mild deficiency of hypoxanthine-guanine phosphoribosyltransferase.
    Sweetman L; Borden M; Lesh P; Bakay B; Becker MA
    Adv Exp Med Biol; 1977; 76A():319-25. PubMed ID: 558714
    [No Abstract]   [Full Text] [Related]  

  • 16. Kelley-Seegmiller syndrome in a patient with complete hypoxanthine-guanine phosphoribosyltransferase deficiency.
    Cossu A; Micheli V; Jacomelli G; Carcassi A
    Clin Exp Rheumatol; 2002; 20(6):851-3. PubMed ID: 12508781
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 63(5):922-30. PubMed ID: 447834
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Hypoxanthine-guanine phosphoribosyltransferase deficiency in the Lesch-Nyhan syndrome and gout.
    Kelley WN
    Fed Proc; 1968; 27(4):1047-52. PubMed ID: 5658470
    [No Abstract]   [Full Text] [Related]  

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

  • 20. [Gene therapy for purine-pyrimidine metabolism inborn errors].
    Hidaka Y
    Nihon Rinsho; 2003 Jan; 61 Suppl 1():478-81. PubMed ID: 12629769
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 9.