The recognition of Lesch‐Nyhan syndrome as an inborn error of purine metabolism
- 1 June 1997
- journal article
- review article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 20 (2), 171-178
- https://doi.org/10.1023/a:1005348504512
Abstract
Lesch‐Nyhan syndrome was first described over thirty years ago. The original patient was a 4‐year‐old boy with neurological abnormalities as well as haematuria. Crystals in his urine were identified ...Keywords
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