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  1. β-Ureidopropionase deficiency: An inborn error of pyrimidine degradation associated with...

    β-Ureidopropionase deficiency is an inborn error of the pyrimidine degradation pathway, affecting the cleavage of N-carbamyl-β-alanine and N-carbamyl-β-aminoisobutyric acid. In this study, we report the elucidation of the genetic basis underlying

  2. Genetic analysis of the first four patients with β-ureidopropionase deficiency

    β-Ureidopropionase is the third enzyme of the pyrimidine degradation pathway and it catalyses the irreversible hydrolysis of N-carbamyl-β- aminoisobutyric acid or N-carbamyl-β-alanine to β-aminoisobutyric acid or β-alanine, ammonia, and CO .

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