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Oral Self-Mutilation in Lesch–Nyhan Patients: A Cross-Sectional Study

11 Oct 2022

Abstract excerpt

Lesch-Nyhan syndrome (LNS) is a rare genetic condition resulting from an inherited disorder of purine metabolism. It is characterized by the lack of one enzyme, hypoxanthine-guanine phos-phoribosyltransferase (HGPRT), which is responsible for purine salvage. The main manifestations of this syndrome are hyperuricaemia, reduction in cognitive abilities, self-aggressive behavior, choreoathetosis, spasticity, and...

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PMID: 36294303
DOI: 10.3390/jcm11205981

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