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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...

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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

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