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Tophus of the right foot in a 15-year-old boy with Lesch-Nyhan disease

(Source: Ambarsari CG, Cahyadi D, Sari L, et al. Late diagnosis of Lesch-Nyhan disease complicated with end-stage renal disease and tophi burst: a case report. Ren Fail 2020;42(1):113-21. Creative Commons Attribution License. http://creativecommons.org/licenses/by/4.0.)

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  • Choreoathetosis
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  • Hyperuricemia
  • Intellectual disability
  • Renal stones