Triacetyluridine treats epileptic encephalopathy from CAD mutations: a case report and review

Refractory epilepsy and encephalopathy are frequently encountered in patients with inborn errors of metabolism. We report a case of an 8‐year‐old girl with history of developmental delay, autism and intractable epilepsy that was found to have a pathogenic variant in CAD. We briefly review the bioche...

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Detalles Bibliográficos
Autores principales: Frederick, Aliya, Sherer, Kimberly, Nguyen, Linda, Ali, Shawn, Garg, Anupam, Haas, Richard, Sahagian, Michelle, Bui, Jonathan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7818142/
https://www.ncbi.nlm.nih.gov/pubmed/33249780
http://dx.doi.org/10.1002/acn3.51257

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7818142/
https://www.ncbi.nlm.nih.gov/pubmed/33249780
http://dx.doi.org/10.1002/acn3.51257

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