Abstract
Since the first description of partial Hypoxanthine-Guanine-Phosphoribosyl-transferase (HPRT) deficiency in 1967 by Kelley, Seegmiller and coworkers a large number of cases has been described. The clinical picture has been quite variable, reaching from asymptomatic hyperuricemia to very severe disease with arthritis, nephrolithiasis and neurological symptoms. In contrast to classical Lesch-Nyhan syndrome selfmutilation is not observed in patients with partial HPRT deficiency.
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References
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© 1995 Springer Science+Business Media New York
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Gathof, B.S., Jurgens, D., Gresser, U. (1995). Clinical Symptoms of Patients with Partial HPRT Deficiency. In: Sahota, A., Taylor, M.W. (eds) Purine and Pyrimidine Metabolism in Man VIII. Advances in Experimental Medicine and Biology, vol 370. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-2584-4_73
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DOI: https://doi.org/10.1007/978-1-4615-2584-4_73
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