Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report

BACKGROUND: Lesch-Nyhan syndrome is a rare inborn error of purine metabolism marked by a complete deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Inherited as an X-linked recessive genetic disorder that primarily affects males, patients with Lesch-Nyhan syndrome exhib...

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Detalles Bibliográficos
Autores principales: Shields, Lisa B. E., Peppas, Dennis S., Rosenberg, Eran
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6043999/
https://www.ncbi.nlm.nih.gov/pubmed/30001695
http://dx.doi.org/10.1186/s12887-018-1197-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6043999/
https://www.ncbi.nlm.nih.gov/pubmed/30001695
http://dx.doi.org/10.1186/s12887-018-1197-5

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