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 *

206 related articles for article (PubMed ID: 7112549)

  • 1. A female case of the Leach-Nyhan syndrome.
    Hara K; Kashiwamata S; Ogasawara N; Ohishi H; Natsume R; Yamanaka T; Hakamada S; Miyazaki S; Watanabe K
    Tohoku J Exp Med; 1982 Jul; 137(3):275-82. PubMed ID: 7112549
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [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]  

  • 3. Adenine phosphoribosyl transferase deficiency in association with sub-normal hypoxanthine phophoribosyl transferase in families of Lesch--Nyhan patients.
    Itiaba K; Melançon SB; Dallaire L; Crawhall JC
    Biochem Med; 1978 Apr; 19(2):252-9. PubMed ID: 656085
    [No Abstract]   [Full Text] [Related]  

  • 4. HGPRT-positive and HGPRT-negative erythrocytes in heterozygotes for HGPRT deficiency.
    Emmerson BT; Johnson LA; Gordon RB
    Adv Exp Med Biol; 1977; 76A():359-60. PubMed ID: 558715
    [No Abstract]   [Full Text] [Related]  

  • 5. Lesch-Nyhan syndrome: biochemical characterization of a case with attenuated behavioral manifestation.
    Fattal A; Spirer Z; Zoref-Shani E; Sperling O
    Enzyme; 1984; 31(1):55-60. PubMed ID: 6201351
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Prenatal diagnosis of Lesch-Nyhan syndrome and some characteristics of hypoxanthine-guanine phosphoribosyltransferase and adenine phosphoribosyltransferase in human tissues and cultivated cells.
    Shin-Buehring YS; Osang M; Wirtz A; Haas B; Rahm P; Schaub J
    Pediatr Res; 1980 Jun; 14(6):825-9. PubMed ID: 7402756
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Hypoxanthine-guanine phosphoribosyltransferase activity in individual erythrocytes: autoradiographic studies in heterozygotes.
    Emmerson BT; Gordon RB; Johnson LA
    Ciba Found Symp; 1977; (48):97-104. PubMed ID: 245995
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Hypoxanthine-guanine phosphoribosyl transferase (HGPRT) deficiency in a girl.
    Ogasawara N; Kashiwamata S; Oishi H; Hara K; Watanabe K; Miyazaki S; Kumagai T; Hakamada S
    Adv Exp Med Biol; 1984; 165 Pt A():13-8. PubMed ID: 6720366
    [No Abstract]   [Full Text] [Related]  

  • 9. Inherited deficiency of hypoxanthine-guanine phosphoribosyltransferase in X-linked uric aciduria (the Lesch-Nyhan syndrome and its variants).
    Seegmiller JE
    Adv Hum Genet; 1976; 6():75-163. PubMed ID: 779428
    [No Abstract]   [Full Text] [Related]  

  • 10. Partial hypoxanthine-guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome.
    Rijksen G; Staal GE; van der Vlist MJ; Beemer Fa; Troost J; Gutensohn W; van Laarhoven JP; de Bruyn CH
    Hum Genet; 1981; 57(1):39-47. PubMed ID: 7262868
    [No Abstract]   [Full Text] [Related]  

  • 11. Lesch-Nyhan disease.
    Nyhan WL
    Nucleosides Nucleotides Nucleic Acids; 2008 Jun; 27(6):559-63. PubMed ID: 18600504
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [A new form of the Lesch-Nyhan syndrome. A study of hypoxanthine-guanine-phosphoribosyl-transferase in fibroblasts. The in vitro and in vivo effect of adenine on enzyme activity].
    Warter S; Bieth R
    Ann Biol Clin (Paris); 1982; 40(5):561-6. PubMed ID: 6186166
    [TBL] [Abstract][Full Text] [Related]  

  • 13. HGPRT structural gene mutation in Lesch-Nyhan-syndrome as indicated by antigenic activity and reversion of the enzyme deficiency.
    Strauss M; Lübbe L; Geissler E
    Hum Genet; 1981; 57(2):185-8. PubMed ID: 7228031
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Two populations of heterozygote erythrocytes in moderate hypoxanthine guanine phosphoribosyltransferase deficiency.
    Johnson LA; Gordon RB; Emmerson BT
    Nature; 1976 Nov; 264(5582):172-4. PubMed ID: 995201
    [No Abstract]   [Full Text] [Related]  

  • 15. [Lesch-Nyhan syndrome: a new variant with hypoxanthine-guanine phosphoriboxyl transferase activity higher than the classical disease and detection of the heterozygote trait in the erythrocytes of the carrier].
    Hernández Nieto L; Nyhan WL; Page T; Cubillo Ferreira G; Rodríguez Fernández M; González García T; Cabrera de León A; Santolaria Fernández FJ
    Med Clin (Barc); 1985 Jan; 84(2):68-71. PubMed ID: 3974350
    [No Abstract]   [Full Text] [Related]  

  • 16. Hypoxanthine-guanine phosphoribosyltransferase gene analysis for Japanese patients with Lesch-Nyhan syndrome.
    Shimizu N; Konomi H; Arima M; Aoki T
    Acta Paediatr Jpn; 1996 Feb; 38(1):36-40. PubMed ID: 8992857
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. [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]  

  • 19. Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease.
    Nguyen KV; Naviaux RK; Nyhan WL
    Nucleosides Nucleotides Nucleic Acids; 2017 Nov; 36(11):704-711. PubMed ID: 29185864
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Purine metabolism in heterozygous carriers of hypoxanthine-guanine phosphoribosyltransferase deficiency.
    Emmerson BT; Wyngaarden JB
    Science; 1969 Dec; 166(3912):1533-5. PubMed ID: 17695080
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.