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Journal Abstract Search

146 related items for PubMed ID: 3728180

  • 1. The effect of allopurinol on cerebral spinal fluid (CSF) purines in hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency syndromes.
    Edwards NL, Puig JG, Mateos FA.
    Adv Exp Med Biol; 1986; 195 Pt A():465-9. PubMed ID: 3728180
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  • 5. The diagnosis of HPRT deficiency in the 21st century.
    Torres RJ, Puig JG.
    Nucleosides Nucleotides Nucleic Acids; 2008 Jun; 27(6):564-9. PubMed ID: 18600505
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  • 6. Lesch-Nyhan syndrome and its pathogenesis: purine concentrations in plasma and urine with metabolite profiles in CSF.
    Harkness RA, McCreanor GM, Watts RW.
    J Inherit Metab Dis; 1988 Jun; 11(3):239-52. PubMed ID: 3148065
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  • 7. GLUT9 influences uric acid concentration in patients with Lesch-Nyhan disease.
    Torres RJ, Puig JG.
    Int J Rheum Dis; 2018 Jun; 21(6):1270-1276. PubMed ID: 29879316
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  • 11. Lesch-Nyhan syndrome: a novel complex mutation with severe phenotype.
    Gucev Z, Koceva S, Marinaki A, Fairbanks L, Kirovski I, Tasic V.
    Clin Genet; 2010 Sep; 78(3):296-7. PubMed ID: 20695874
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  • 12. 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
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  • 13. Plasma and urinary oxypurines in Lesch-Nyhan patient after allopurinol treatment.
    Roscioni G, Farnetani MA, Pagani R, Pizzichini M, Marinello E, Porcelli B.
    Adv Exp Med Biol; 1994 Mar; 370():357-61. PubMed ID: 7660928
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  • 16. Late diagnosis of Lesch-Nyhan disease variant.
    Doucet BP, Jegatheesan D, Burke J.
    BMJ Case Rep; 2013 Dec 10; 2013():. PubMed ID: 24326440
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  • 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 Dec 10; 28(1):28-37. PubMed ID: 15711436
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  • 18. Adenine therapy in Lesch-Nyhan syndrome.
    Bührdel P, Krüger W, Hirschberg K, Wehnert M.
    Acta Paediatr Hung; 1985 Dec 10; 26(4):327-33. PubMed ID: 4096858
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  • 20. The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
    Puig JG, Torres RJ, Mateos FA, Ramos T, Buno AS, Arcas J.
    Adv Exp Med Biol; 2000 Dec 10; 486():15-21. PubMed ID: 11783474
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