Case Report: Rapid Treatment of Uridine-Responsive Epileptic Encephalopathy Caused by CAD Deficiency

We present two unrelated Chinese patients with CAD deficiency manifesting with a triad of infantile-onset psychomotor developmental delay with regression, drug-refractory epilepsy, and anaemia with anisopoikilocytosis. Timely translation into uridine supplementation, within 2-months of disease onset...

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Detalles Bibliográficos
Autores principales: Zhou, Ling, Deng, Jie, Stenton, Sarah L., Zhou, Ji, Li, Hua, Chen, Chunhong, Prokisch, Holger, Fang, Fang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Pharmacology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7750521/
https://www.ncbi.nlm.nih.gov/pubmed/33364968
http://dx.doi.org/10.3389/fphar.2020.608737

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7750521/
https://www.ncbi.nlm.nih.gov/pubmed/33364968
http://dx.doi.org/10.3389/fphar.2020.608737

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