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Recurrent Xanthine Stones in a Young Patient with Lesch–Nyhan Syndrome

Background: Lesch–Nyhan syndrome results from a rare X-linked inborn error of metabolism leading to a total body accumulation of uric acid. Clinical manifestations include self-mutilating behavior, poor muscle control, intellectual disability, gout, and kidney disease. Unfortunately, life expectancy...

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Pubblicato in:J Endourol Case Rep
Autori principali: Meagher, Margaret F., Bechis, Seth K.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Mary Ann Liebert, Inc., publishers 2020
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7803241/
https://ncbi.nlm.nih.gov/pubmed/33457651
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/cren.2020.0046
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