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Journal Abstract Search

136 related items for PubMed ID: 656085

  • 1. 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]

  • 2. 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
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  • 3. [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
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  • 4. Simple screening methods for hypoxanthine-guanine phosphoribosyltransferase and adenine phosphoribosyltransferase deficiencies using dried blood spots on filter paper.
    Nishida Y, Miyamoto T.
    Ann Clin Biochem; 1986 Sep; 23 ( Pt 5)():529-32. PubMed ID: 3767288
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  • 5. [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 Sep; 40(5):561-6. PubMed ID: 6186166
    [Abstract] [Full Text] [Related]

  • 6. 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
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  • 7. Simple screening methods for disorders of purine metabolism using dried blood and or urine spots on filter paper.
    Nishida Y, Takeuchi F, Miyamoto T.
    Adv Exp Med Biol; 1989 Jul; 253A():123-7. PubMed ID: 2624180
    [No Abstract] [Full Text] [Related]

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  • 15. 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
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  • 16. [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 19; 84(2):68-71. PubMed ID: 3974350
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  • 18. Problems in diagnosis and treatment of adenine and hypoxanthine-guanine phosphoribosyltransferase deficiency.
    Dillon MJ, Simmonds HA, Barratt TM, Fairbanks LD, Holland PC.
    Adv Exp Med Biol; 1984 Jan 19; 165 Pt A():1-6. PubMed ID: 6720360
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  • 19. Lesch-Nyhan syndrome: biochemical characterization of a case with attenuated behavioral manifestation.
    Fattal A, Spirer Z, Zoref-Shani E, Sperling O.
    Enzyme; 1984 Jan 19; 31(1):55-60. PubMed ID: 6201351
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  • 20. [Effect of a purine-free diet on the purine phosphoribosyltransferase activity of erythrocytes in patients with Lesch-Nyhan syndrome].
    Semenova IA, Pen'kovskaia NP.
    Vopr Med Khim; 1984 Jan 19; 30(4):94-7. PubMed ID: 6506590
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