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

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...

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Detalles Bibliográficos
Autores principales: Isola, Gaetano, Piccardo, Ilaria, De Mari, Anna, Alberti, Giorgio, Migliorati, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9604969/
https://www.ncbi.nlm.nih.gov/pubmed/36294303
http://dx.doi.org/10.3390/jcm11205981