Article

Cell-based analysis of <i>CAD</i> variants identifies individuals likely to benefit from uridine therapy

2020-03-12

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> Pathogenic autosomal recessive variants in CAD , encoding the multienzymatic protein initiating pyrimidine de novo biosynthesis, cause a severe inborn metabolic disorder treatable with a dietary supplement of uridine. This condition is difficult to diagnose given the large size of CAD with over 1000 missense variants and the non-specific clinical presentation. We aimed to de...

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Literature Corpus work: c530eb15-dae9-5227-a534-7e50761f137c
DOI: 10.1101/2020.03.11.987651

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