Abstract
The abnormal function of the central nervous system in the Lesch-Nyhan syndrome (McKusick, 30800) due to an isolated deficiency of the purine salvage enzyme hypoxanthine guanine phosphor ibosyltransf erase, HPRT (EC 2.4. 2.8) has been difficult to understand despite the postnatal development of high specific activity in the brain.
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© 1989 Plenum Press, New York
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Harkness, R.A. (1989). Lesch-Nyhan Syndrome: Reduced Amino Acid Concentrations in CSF and Brain. In: Mikanagi, K., Nishioka, K., Kelley, W.N. (eds) Purine and Pyrimidine Metabolism in Man VI. Advances in Experimental Medicine and Biology, vol 253A. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-5673-8_26
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DOI: https://doi.org/10.1007/978-1-4684-5673-8_26
Publisher Name: Springer, Boston, MA
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