189 related articles for article (PubMed ID: 305334)
1. 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]
2. Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome.
Arnold WJ; Meade JC; Kelley WN
J Clin Invest; 1972 Jul; 51(7):1805-12. PubMed ID: 4624352
[TBL] [Abstract][Full Text] [Related]
3. Diminished affinity for purine substrates as a basis for gout with mild deficiency of hypoxanthine-guanine phosphoribosyltransferase.
Sweetman L; Borden M; Lesh P; Bakay B; Becker MA
Adv Exp Med Biol; 1977; 76A():319-25. PubMed ID: 558714
[No Abstract] [Full Text] [Related]
4. [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]
5. 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]
6. 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]
7. 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]
8. 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]
9. Dietary-induced variation of hypoxanthine-guanine phosphoribosyl transferase activity in patients with the Lesch-Nyhan syndrome.
Arnold WJ; Kelley WN
J Clin Invest; 1973 Apr; 52(4):970-3. PubMed ID: 4693659
[TBL] [Abstract][Full Text] [Related]
10. [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]
11. 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]
12. 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]
13. Activation of variants of hypoxanthine-guanine phosphoribosyl transferase by the normal enzyme.
Bakay B; Nyhan WL
Proc Natl Acad Sci U S A; 1972 Sep; 69(9):2523-6. PubMed ID: 4341698
[TBL] [Abstract][Full Text] [Related]
14. Radioimmune determination of hypoxanthine phosphoribosyltransferase crossreacting material in erythrocytes of Lesch-Nyhan patients.
Ghangas GS; Milman G
Proc Natl Acad Sci U S A; 1975 Oct; 72(10):4147-50. PubMed ID: 1060095
[TBL] [Abstract][Full Text] [Related]
15. Purine and pyrimidine nucleotide concentrations in cells with decreased hypoxanthine-guanine-phosphoribosyltransferase (HGPRT) activity.
Nuki G; Astrin K; Brenton D; Cruikshank M; Lever J; Seegmiller JE
Adv Exp Med Biol; 1977; 76A():326-40. PubMed ID: 857617
[TBL] [Abstract][Full Text] [Related]
16. [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]
17. Characterization of the alterations in purine nucleotide metabolism in hypoxanthine-guanine phosphoribosyltransferase-deficient rat neuroma cell line.
Zoref-Shani E; Bromberg Y; Brosh S; Sidi Y; Sperling O
J Neurochem; 1993 Aug; 61(2):457-63. PubMed ID: 8336135
[TBL] [Abstract][Full Text] [Related]
18. [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]
19. Purine base transport in normal and mutant erythrocytes.
Müller MM; Kraupp M; de Bruyn CH
Hum Hered; 1979; 29(2):118-23. PubMed ID: 437792
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]