BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

244 related articles for article (PubMed ID: 22132983)

  • 1. Simultaneous determination of purine and pyrimidine metabolites in HPRT-deficient cell lines.
    Yamaoka N; Inazawa K; Inagawa S; Yasuda M; Mawatari K; Nakagomi K; Fujimori S; Yamada Y; Kaneko K
    Nucleosides Nucleotides Nucleic Acids; 2011 Dec; 30(12):1256-9. PubMed ID: 22132983
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. [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]  

  • 4. [Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)].
    Yamada Y
    Nihon Rinsho; 2008 Apr; 66(4):687-93. PubMed ID: 18409516
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Partial HPRT deficiency (Kelley-Seegmiller syndrome).
    Saigal R; Chakraborty A; Yadav RN; Prashant RK
    J Assoc Physicians India; 2006 Jan; 54():49-52. PubMed ID: 16649740
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A human neuronal tissue culture model for Lesch-Nyhan disease.
    Shirley TL; Lewers JC; Egami K; Majumdar A; Kelly M; Ceballos-Picot I; Seidman MM; Jinnah HA
    J Neurochem; 2007 May; 101(3):841-53. PubMed ID: 17448149
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Disorders of purines and pyrimidines.
    Kelley RE; Andersson HC
    Handb Clin Neurol; 2014; 120():827-38. PubMed ID: 24365355
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways.
    Fu R; Sutcliffe D; Zhao H; Huang X; Schretlen DJ; Benkovic S; Jinnah HA
    Mol Genet Metab; 2015 Jan; 114(1):55-61. PubMed ID: 25481104
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Brain purines in a genetic mouse model of Lesch-Nyhan disease.
    Jinnah HA; Page T; Friedmann T
    J Neurochem; 1993 Jun; 60(6):2036-45. PubMed ID: 8492116
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Unusual presentation of Kelley-Seegmiller syndrome.
    Sebesta I; Stiburková B; Dvorakova L; Hrebicek M; Minks J; Stolnaja L; Vernerova Z; Rychlik I
    Nucleosides Nucleotides Nucleic Acids; 2008 Jun; 27(6):648-55. PubMed ID: 18600521
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 11(5):691-4. PubMed ID: 870876
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Complete and partial deficiency of HPRT].
    Ogasawara N
    Nihon Rinsho; 1996 Dec; 54(12):3315-20. PubMed ID: 8976112
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 13(12):1365-70. PubMed ID: 523196
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Purine metabolism in female heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency.
    Puig JG; Mateos FA; Torres RJ; Buño AS
    Eur J Clin Invest; 1998 Nov; 28(11):950-7. PubMed ID: 9824441
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Purine and pyrimidine metabolism.
    Ciba Found Symp; 1977; (48):331-55. PubMed ID: 245993
    [No Abstract]   [Full Text] [Related]  

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

  • 19. Altered membrane NTPase activity in Lesch-Nyhan disease fibroblasts: comparison with HPRT knockout mice and HPRT-deficient cell lines.
    Pinto CS; Jinnah HA; Shirley TL; Nyhan WL; Seifert R
    J Neurochem; 2005 Jun; 93(6):1579-86. PubMed ID: 15935074
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Abnormal purine metabolism and purine overproduction in a patient deficient in purine nucleoside phosphorylase.
    Cohen A; Doyle D; Martin DW; Ammann AJ
    N Engl J Med; 1976 Dec; 295(26):1449-54. PubMed ID: 825775
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.