Abstract
The clinical picture of the Lesch-Nyhan syndrome shows besides massive hyperuricemia mental retardation and spasticity (later choreoathetosis and self mutilation in the behavior) (1). The disturbance of purine metabolism is based on the deficiency of hypoxanthine-guanine phosphoribosyltransferase activity (HG-PRT) (2).
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© 1974 Plenum Press, New York
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Müller, M.M., Stemberger, H. (1974). Immunological Studies of Hypoxanthine-Guanine Phosphoribosyltransferase in Lesch-Nyhan Syndrome. In: Sperling, O., De Vries, A., Wyngaarden, J.B. (eds) Purine Metabolism in Man. Advances in Experimental Medicine and Biology, vol 41A. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-3294-7_22
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DOI: https://doi.org/10.1007/978-1-4684-3294-7_22
Publisher Name: Springer, Boston, MA
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