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  1. No Access

    Chapter

    Complete Deficiency of Adenine Phosphoribosyltransferase: Report of a Family

    The study of inborn errors of purine metabolism in man has led to a better understanding of the latter. Deficiencies of enzymes involved in the purine reutilization pathways mainly concern the hypoxanthine-gua...

    K. J. Van Acker, H. A. Simmonds, J. S. Cameron in Purine Metabolism in Man—II (1977)

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    Chapter

    Purine Excretion in Complete Adenine Phosphoribosyltransferase Deficiency: Effect of Diet and Allopurinol Therapy

    Partial adenine phosphoribosyltransferase (APRTase) deficiency has been considered hitherto as relatively benign in that the only detectable abnormality of purine metabolism has been hyperuricaemia varyingly a...

    H. A. Simmonds, K. J. Van Acker, J. S. Cameron, A. McBurney in Purine Metabolism in Man—II (1977)

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    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)

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    Article

    Idiopathic arterial calcification of infancy

    We describe two twin sisters in whom calcification of different arteries was detected in the first weeks of life. Transient renal insufficiency, arterial hypertension, and skeletal abnormalities were also obse...

    P. J. Van Reempts, K. J. Boven, S. E. Spitaels… in Calcified Tissue International (1991)

  7. No Access

    Chapter

    Long-Term Evolution of Type 1 Adenine Phosphoribosyltransferase (APRT) Deficiency

    There are two types of inherited adenine phosphoribosyltransferase (APRT) deficiency: type I (APRT*Qo) in which enzyme activity is practically undetectable and which is seen predominantly in Caucasians, and ty...

    K. J. Van Acker, H. A. Simmonds in Purine and Pyrimidine Metabolism in Man VII (1991)