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4. Physiological levels of folic acid reveal purine alterations in Lesch-Nyhan disease. López JM; Outtrim EL; Fu R; Sutcliffe DJ; Torres RJ; Jinnah HA Proc Natl Acad Sci U S A; 2020 Jun; 117(22):12071-12079. PubMed ID: 32430324 [TBL] [Abstract][Full Text] [Related]
5. Is ZMP the toxic metabolite in Lesch-Nyhan disease? López JM Med Hypotheses; 2008 Nov; 71(5):657-63. PubMed ID: 18710792 [TBL] [Abstract][Full Text] [Related]
6. Cytosolic 5'-nucleotidase hyperactivity in erythrocytes of Lesch-Nyhan syndrome patients. Pesi R; Micheli V; Jacomelli G; Peruzzi L; Camici M; Garcia-Gil M; Allegrini S; Tozzi MG Neuroreport; 2000 Jun; 11(9):1827-31. PubMed ID: 10884027 [TBL] [Abstract][Full Text] [Related]
7. Role of purine biosynthetic intermediates in response to folate stress in Escherichia coli. Rohlman CE; Matthews RG J Bacteriol; 1990 Dec; 172(12):7200-10. PubMed ID: 2254281 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. A new physiological medium uncovers biochemical and cellular alterations in Lesch-Nyhan disease fibroblasts. Escudero-Ferruz P; Ontiveros N; Cano-Estrada C; Sutcliffe DJ; Jinnah HA; Torres RJ; López JM Mol Med; 2024 Jan; 30(1):3. PubMed ID: 38172668 [TBL] [Abstract][Full Text] [Related]
12. Adenosine metabolism in permanent lymphocyte lines and in erythrocytes of patients with the Lesch-Nyhan syndrome. Reem GH Adv Exp Med Biol; 1977; 76A():384-90. PubMed ID: 855718 [TBL] [Abstract][Full Text] [Related]
13. Severe pyridine nucleotide depletion in fibroblasts from Lesch-Nyhan patients. Fairbanks LD; Jacomelli G; Micheli V; Slade T; Simmonds HA Biochem J; 2002 Aug; 366(Pt 1):265-72. PubMed ID: 11996669 [TBL] [Abstract][Full Text] [Related]
14. Abnormal purine metabolism and purine overproduction in a patient deficient in purine nucleoside phosphorylase. Cohen A; Doyle D; Martin DW; Ammann AJ N Engl J Med; 1976 Dec; 295(26):1449-54. PubMed ID: 825775 [TBL] [Abstract][Full Text] [Related]
15. 5'-aminoimidazole-4-carboxamide riboside induces apoptosis in human neuroblastoma cells. Garcia-Gil M; Pesi R; Perna S; Allegrini S; Giannecchini M; Camici M; Tozzi MG Neuroscience; 2003; 117(4):811-20. PubMed ID: 12654334 [TBL] [Abstract][Full Text] [Related]
16. Orotidine accumulation in human erythrocytes during allopurinol therapy: association with high urinary oxypurinol-7-riboside concentrations in renal failure and in the Lesch-Nyhan syndrome. Simmonds HA; Reiter S; Davies PM; Cameron JS Clin Sci (Lond); 1991 Mar; 80(3):191-7. PubMed ID: 1850677 [TBL] [Abstract][Full Text] [Related]
17. Hypothesized deficiency of guanine-based purines may contribute to abnormalities of neurodevelopment, neuromodulation, and neurotransmission in Lesch-Nyhan syndrome. Deutsch SI; Long KD; Rosse RB; Mastropaolo J; Eller J Clin Neuropharmacol; 2005; 28(1):28-37. PubMed ID: 15711436 [TBL] [Abstract][Full Text] [Related]
18. The enzymatic synthesis of 5-amino-4-imidazolecarboxamide riboside triphosphate (ZTP). Sabina RL; Holmes EW; Becker MA Science; 1984 Mar; 223(4641):1193-5. PubMed ID: 6199843 [TBL] [Abstract][Full Text] [Related]
19. An alternate metabolic route for the synthesis of inosine 5'-phosphate (IMP) in the Lesch-Nyhan erythrocyte. Lowy BA; Williams MK Adv Exp Med Biol; 1977; 76A():376-83. PubMed ID: 855717 [No Abstract] [Full Text] [Related]
20. Factors in the pathogenesis of the brain damage and anaemia in the Lesch-Nyhan syndrome. McKeran RO Ciba Found Symp; 1977; (48):83-96. PubMed ID: 245994 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]