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PUBMED FOR HANDHELDS

Journal Abstract Search


128 related items for PubMed ID: 2560329

  • 1.
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  • 2. Regulation of nicotinamide-adenine dinucleotide synthesis in erythrocytes of patients with hypoxanthine-guanine phosphoribosyltransferase deficiency and a patient with phosphoribosylpyrophosphate synthetase superactivity.
    Micheli V, Simmonds HA, Ricci C.
    Clin Sci (Lond); 1990 Feb; 78(2):239-45. PubMed ID: 2155755
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  • 5. Increased purine nucleotide degradation in the central nervous system (CNS) in PRPP synthetase superactivity.
    Jiménez ML, Puig JG, Mateos FA, Ramos TH, Melián JS, Nieto VG, Becker MA.
    Adv Exp Med Biol; 1989 Feb; 253A():9-13. PubMed ID: 2560341
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  • 6. Abnormal purine and pyrimidine metabolism in inherited superactivity of PRPP synthetase.
    Bory C, Chantin C, Boulieu R.
    Adv Exp Med Biol; 1994 Feb; 370():15-8. PubMed ID: 7660879
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  • 7. PRPP synthetase superactivity in lymphoblast lines.
    Becker MA, Losman MJ, Rimon D, Kim M.
    Adv Exp Med Biol; 1986 Feb; 195 Pt A():51-8. PubMed ID: 3014839
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  • 8. Inherited phosphoribosylpyrophosphate synthetase superactivity due to aberrant inhibitor and activator responsiveness.
    Becker MA, Losman MJ, Simmonds HA.
    Adv Exp Med Biol; 1986 Feb; 195 Pt A():59-66. PubMed ID: 3014841
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  • 13. Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout. Phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts.
    Zoref E, De Vries A, Sperling O.
    J Clin Invest; 1975 Nov; 56(5):1093-9. PubMed ID: 171280
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  • 14. Gout with superactive phosphoribosylpyrophosphate synthetase due to increased enzyme catalytic rate.
    Becker MA, Losman MJ, Itkin P, Simkin PA.
    J Lab Clin Med; 1982 Apr; 99(4):495-511. PubMed ID: 6174658
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  • 15. Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.
    Porrmann J, Betcheva-Krajcir E, Di Donato N, Kahlert AK, Schallner J, Rump A, Schröck E, Dobritzsch D, Roelofsen J, van Kuilenburg ABP, Tzschach A.
    Am J Med Genet A; 2017 Oct; 173(10):2736-2742. PubMed ID: 28742244
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  • 16. Inherited superactivity of phosphoribosylpyrophosphate synthetase: association of uric acid overproduction and sensorineural deafness.
    Becker MA, Puig JG, Mateos FA, Jimenez ML, Kim M, Simmonds HA.
    Am J Med; 1988 Sep; 85(3):383-90. PubMed ID: 2843048
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  • 17. [PRPP synthetase superactivity].
    Fujimori S.
    Nihon Rinsho; 1996 Dec; 54(12):3309-14. PubMed ID: 8976111
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  • 18. Phosphoribosylpyrophosphate synthetase superactivity. A study of five patients with catalytic defects in the enzyme.
    Becker MA, Losman MJ, Rosenberg AL, Mehlman I, Levinson DJ, Holmes EW.
    Arthritis Rheum; 1986 Jul; 29(7):880-8. PubMed ID: 3017368
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  • 19. Potent and specific inhibitors of mammalian phosphoribosylpyrophosphate (PRPP) synthetase.
    Willis RC, Nord LD, Fujitaki JM, Breen TS, Matsumoto SS.
    Adv Exp Med Biol; 1989 Jul; 253B():7-12. PubMed ID: 2558549
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  • 20. The mode of genetic transmission of gouty family with increased phosphoribosylpyrophosphate synthetase activity.
    Takeuchi F, Hanaoka F, Yano E, Yamada M, Horiuchi Y, Akaoka I.
    Hum Genet; 1981 Jul; 58(3):322-30. PubMed ID: 6276287
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