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4. Diagnosis of Lesch-Nyhan heterozygotes by peripheral blood. Kamatani N; Yamanaka H; Nishioka K; Nishida Y; Mikanagi K Adv Exp Med Biol; 1986; 195 Pt A():157-62. PubMed ID: 3728148 [No Abstract] [Full Text] [Related]
5. 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]
6. Advances in the study of inherited metabolic disease. Gibbs DA J Inherit Metab Dis; 1989; 12(2):240-6. PubMed ID: 2569050 [No Abstract] [Full Text] [Related]
7. Genetic diagnosis of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) carrier status by restriction analysis and directed mutagenesis. Torres RJ; Buño A; Molano J; Mateos FA; Puig JG Adv Exp Med Biol; 1998; 431():201-4. PubMed ID: 9598059 [No Abstract] [Full Text] [Related]
8. [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]
9. Pre-implantation diagnosis of HPRT-deficient male and carrier female mouse embryos by trophectoderm biopsy. Monk M; Muggleton-Harris AL; Rawlings E; Whittingham DG Hum Reprod; 1988 Apr; 3(3):377-81. PubMed ID: 3372699 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. A case of severe hypoxanthine-guanine phosphoribosyl transferase deficiency. Zanić T; Gamulin V; Lipovac K J Inherit Metab Dis; 1985; 8(2):79. PubMed ID: 3939536 [No Abstract] [Full Text] [Related]
12. [A family of hypoxanthine-guanine phosphoribosyl transferase deficiency without neurological disorders (author's transl)]. Toyo-Oka T; Akaoka I; Nishizawa T; Yoshimura T; Nishida Y Nihon Naika Gakkai Zasshi; 1975 Jan; 64(1):38-43. PubMed ID: 1236912 [No Abstract] [Full Text] [Related]
13. Determination of Activity of the Enzymes Hypoxanthine Phosphoribosyl Transferase (HPRT) and Adenine Phosphoribosyl Transferase (APRT) in Blood Spots on Filter Paper. Auler K; Broock R; Nyhan WL Curr Protoc Hum Genet; 2015 Jul; 86():17.19.1-17.19.10. PubMed ID: 26132002 [TBL] [Abstract][Full Text] [Related]
15. Increased de novo purine synthesis in cultured skin fibroblasts from heterozygotes for the Lesch-Nyhan syndrome. A sensitive marker for carrier detection. Zoref E; Sperling O Hum Hered; 1979; 29(1):64-8. PubMed ID: 761926 [TBL] [Abstract][Full Text] [Related]
16. [Complete and partial deficiency of HPRT]. Ogasawara N Nihon Rinsho; 1996 Dec; 54(12):3315-20. PubMed ID: 8976112 [TBL] [Abstract][Full Text] [Related]
17. 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]
19. Studies on hair roots for carrier detection in hypoxanthine-quanine phosphoribosyl transferase deficiency. de Bruyn CH; Oei TL; ter Haar BG Clin Genet; 1974; 5(5):449-56. PubMed ID: 4854466 [No Abstract] [Full Text] [Related]
20. Detection of the carrier state for an X-linked disorder, the Lesch-Nyhan syndrome, by the use of lymphocyte cloning. Dempsey JL; Morley AA; Seshadri RS; Emmerson BT; Gordon R; Bhagat CI Hum Genet; 1983; 64(3):288-90. PubMed ID: 6885075 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]