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

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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Bibliographic Details
Main Authors: Ling Zhou (Author), Jie Deng (Author), Sarah L. Stenton (Author), Ji Zhou (Author), Hua Li (Author), Chunhong Chen (Author), Holger Prokisch (Author), Fang Fang (Author)
Format: Book
Published: Frontiers Media S.A., 2020-12-01T00:00:00Z.
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