Articles with "cad mutation" as a keyword



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A Treatable Genetic Disease Caused by CAD Mutation

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Published in 2022 at "Frontiers in Pediatrics"

DOI: 10.3389/fped.2022.771374

Abstract: 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… read more here.

Keywords: cad mutation; disease caused; disease; treatable genetic ... See more keywords