Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literature

Developmental and epileptic encephalopathy type 50 is an autosomal recessive disorder caused by pathogenic variants in CAD. This gene encodes a multifunctional enzyme involved in the initial steps of de novo pyrimidine synthesis. Uridine treatment has been shown to be effective in this disease. Here...

Descripción completa

Detalles Bibliográficos
Autores principales: Al-Otaibi, Ali, AlAyed, Alaa, Al Madhi, Asma, Saeed, Leena, Ng, Bobby G., Freeze, Hudson H., Almannai, Mohammed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8856910/
https://www.ncbi.nlm.nih.gov/pubmed/35242569
http://dx.doi.org/10.1016/j.ymgmr.2021.100835

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8856910/
https://www.ncbi.nlm.nih.gov/pubmed/35242569
http://dx.doi.org/10.1016/j.ymgmr.2021.100835

Ejemplares similares