246 related articles for article (PubMed ID: 4693659)
1. 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]
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. [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]
4. 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]
5. [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]
6. [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]
7. [Erythrocyte purine phosphoribosyltransferase activity in girls with the Lesch-Nyhan syndrome].
Aleksandrova LA; Shaposhnikov AM
Vopr Med Khim; 1981; 27(4):488-92. PubMed ID: 7293080
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. [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]
10. [Isoenzymes of purine phosphoribosyltransferases in erythrocytes of Lesch-Nyhan patients (author's transl)].
Müller MM
Z Klin Chem Klin Biochem; 1974 Jan; 12(1):28-32. PubMed ID: 4819713
[No Abstract] [Full Text] [Related]
11. Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency: effect of dietary purines on enzyme activity.
Arnold WJ; Kelley WN
Adv Exp Med Biol; 1973; 41():203-9. PubMed ID: 4791192
[No Abstract] [Full Text] [Related]
12. 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]
13. Human hypoxanthine-guanine phosphoribosyltransferase: studies on the normal and mutant forms of the enzyme.
Kelley WN; Arnold WJ
Fed Proc; 1973 Jun; 32(6):1656-9. PubMed ID: 4710877
[No Abstract] [Full Text] [Related]
14. 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]
15. Role of glutamine in purine synthesis and in guanine nucleotide formation in normal fibroblasts and in fibroblasts deficient in hypoxanthine phosphoribosyltransferase activity.
Raivio KO; Seegmiller JE
Biochim Biophys Acta; 1973 Mar; 299(2):283-92. PubMed ID: 4706454
[No Abstract] [Full Text] [Related]
16. Lesch-Nyhan mutation: the influence of population density on purine phosphoribosyltransferase activities and exogenous purine utilization in monolayer cultures of skin fibroblasts.
Wood S; Pinsky L
J Cell Physiol; 1972 Aug; 80(1):33-40. PubMed ID: 4341987
[No Abstract] [Full Text] [Related]
17. [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]
18. 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. Ataxia and disorders of purine metabolism: defects in hypoxanthine guanine phosphoribosyl transferase and clinical ataxia.
Nyhan WL
Adv Neurol; 1978; 21():279-87. PubMed ID: 735927
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
