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  1. No Access

    Chapter

    Immunological Evaluation of a Family Deficient in Adenine Phosphoribosyl Transferase (APRT)

    The recent finding of immunodeficiency associated with inherited defects of purine metabolism has led to an intensive study of the latter in lymphocytes.Information can be gained from two sources: analysis of ...

    W. J. Stevens, M. E. Peetermans, K. J. Van Acker in Purine Metabolism in Man-III (1980)

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    Chapter

    Spectrum of 2,8-Dihydroxyadenine Urolithiasis in Complete APRT Deficiency

    The identification of 2,8-dihydroxyadenine (2,8-DHA), a uric acid analogue characterised by its extreme insolubility, as the principal component of so-called ‘uric acid’ stones in a young male child, was origi...

    H. A. Simmonds, T. M. Barratt, D. R. Webster, A. Sahota… in Purine Metabolism in Man-III (1980)

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    Chapter

    Inheritance of Adenine Phosphoribosyltransferase (APRT) Deficiency

    Recognition of the importance of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT) in the control of purine metabolism lead to systematic investigations of the companion purine salvage enzyme, ...

    K. J. Van Acker, H. A. Simmonds, C. F. Potter, A. Sahota in Purine Metabolism in Man-III (1980)