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A Treatable Genetic Disease Caused by CAD Mutation

Type 50 early infantile epileptic encephalopathy, or EIEE-50 for short, is an autosomal recessive genetic disorder resulting from CAD mutations. So far, little has been reported on the disease. In this article, we will discuss the case of a male infant who is 8 years and 5 months old. A whole-exome...

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Detalles Bibliográficos
Autores principales:	Peng, Xia, Xia, Li-ping, Zhang, Hai-ju, Zhang, Jing, Yu, Shi-qian, Wang, Shun, Xu, Yu-ming, Yao, Baozhen, Ye, Jingping
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8959624/ https://www.ncbi.nlm.nih.gov/pubmed/35356445 http://dx.doi.org/10.3389/fped.2022.771374

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