Lesch–Nyhan syndrome: a case report

Lesch–Nyhan syndrome (LNS) is a rare X-linked recessive disorder caused by a mutation in the hypoxanthine phosphoribosyltransferase 1 (HPRT1) gene. This syndrome is characterized by excessive production of uric acid, mental retardation, self-mutilation, choreoathetosis, and spasticity. The most dist...

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Detalles Bibliográficos
Autores principales: Park, Han Ick, Kim, Gu-Hwan, Ahn, Kang-Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Association of Oral and Maxillofacial Surgeons 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10466019/
https://www.ncbi.nlm.nih.gov/pubmed/37641907
http://dx.doi.org/10.5125/jkaoms.2023.49.4.228

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10466019/
https://www.ncbi.nlm.nih.gov/pubmed/37641907
http://dx.doi.org/10.5125/jkaoms.2023.49.4.228

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