Hereditary orotic aciduria (HOA): A novel uridine-5-monophosphate synthase (UMPS) mutation

Hereditary orotic aciduria (HOA) is a very rare inborn error of pyrimidine metabolism. It results from a defect of the uridine-5-monophosphate synthase (UMPS) gene. To date, only about twenty patients have been described. We report a case of HOA with a novel variant in the UMPS gene. A 17-year-old E...

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Detalles Bibliográficos
Autores principales: Al Absi, Hebah S., Sacharow, Stephanie, Al Zein, Naser, Al Shamsi, Aisha, Al Teneiji, Amal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7807243/
https://www.ncbi.nlm.nih.gov/pubmed/33489760
http://dx.doi.org/10.1016/j.ymgmr.2020.100703

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7807243/
https://www.ncbi.nlm.nih.gov/pubmed/33489760
http://dx.doi.org/10.1016/j.ymgmr.2020.100703

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