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24. 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]
25. Molecular mechanisms of the second female Lesch-Nyhan patient. Yamada Y; Goto H; Yukawa T; Akazawa H; Ogasawara N Adv Exp Med Biol; 1994; 370():337-40. PubMed ID: 7660922 [No Abstract] [Full Text] [Related]
26. Eighteen novel mutations in patients with Lesch-Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency. Willers I; Bolz H; Wehnert M; Gal A J Inherit Metab Dis; 1999 Oct; 22(7):845-6. PubMed ID: 10518289 [No Abstract] [Full Text] [Related]
27. HPRT gene mutations in a female Lesch-Nyhan patient. Ogasawara N; Yamada Y; Goto H Adv Exp Med Biol; 1991; 309B():109-12. PubMed ID: 1781352 [No Abstract] [Full Text] [Related]
28. 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]
29. Lesch-Nyhan disease in a female with a clinically normal monozygotic twin. De Gregorio L; Jinnah HA; Harris JC; Nyhan WL; Schretlen DJ; Trombley LM; O'Neill JP Mol Genet Metab; 2005 May; 85(1):70-7. PubMed ID: 15862283 [TBL] [Abstract][Full Text] [Related]
30. 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]
31. Genetic analysis of the HPRT mutation of Lesch-Nyhan syndrome in a Chinese family. Lee WJ; Lee HM; Chi CS; Yang MT; Lin HY; Lin WH Zhonghua Yi Xue Za Zhi (Taipei); 1995 Dec; 56(6):359-66. PubMed ID: 8851475 [TBL] [Abstract][Full Text] [Related]
32. Hypoxanthine phosphoribosyltransferase deficiency: association of reduced catalytic activity with reduced levels of immunologically detectable enzyme protein. Upchurch KS; Leyva A; Arnold WJ; Holmes EW; Kelley WN Proc Natl Acad Sci U S A; 1975 Oct; 72(10):4142-6. PubMed ID: 1060094 [TBL] [Abstract][Full Text] [Related]
33. [Activity of erythrocyte purine phosphoribosyltransferases in Lesch-Nyhan syndrome]. Aleksandrova LA; Shaposhnikov AM Vopr Med Khim; 1981; 27(2):215-20. PubMed ID: 7281560 [TBL] [Abstract][Full Text] [Related]
34. 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 [TBL] [Abstract][Full Text] [Related]
35. [Complete and partial deficiency of HPRT]. Ogasawara N Nihon Rinsho; 1996 Dec; 54(12):3315-20. PubMed ID: 8976112 [TBL] [Abstract][Full Text] [Related]
36. Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations. Yamada Y; Nomura N; Yamada K; Wakamatsu N; Kaneko K; Fujimori S Nucleosides Nucleotides Nucleic Acids; 2008 Jun; 27(6):570-4. PubMed ID: 18600506 [TBL] [Abstract][Full Text] [Related]
37. Genetic heterogeneity at the locus for hypoxanthine-guanine phosphoribosyltransferase. Nyhan WL Ciba Found Symp; 1977; (48):65-81. PubMed ID: 305334 [TBL] [Abstract][Full Text] [Related]
38. 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; 253A():123-7. PubMed ID: 2624180 [No Abstract] [Full Text] [Related]
39. [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; 30(4):94-7. PubMed ID: 6506590 [TBL] [Abstract][Full Text] [Related]
40. High-performance liquid chromatographic method for simultaneous screening of the deficiencies of APRT and HPRT. Nishina T; Sakuma R; Kojima T; Kiyamura M; Kamatani N; Nishioka K Adv Exp Med Biol; 1989; 253A():59-65. PubMed ID: 2483031 [No Abstract] [Full Text] [Related] [Previous] [Next] [New Search]