A Systems Biology Workflow to Support the Diagnosis of Pyrimidine and Urea Cycle Disorders

DN Slenter, IMGM Hemel, CT Evelo, J Bierau…
medRxiv, 2022
Drug Discovery Published: (Mar/2022)
DOI: https://doi.org/10.1101/2022.01.31.21265847

Background: Pyrimidine (and purine) metabolism provides essential high-energy vehicles, universal throughout all life, which carry both activated metabolites that serve as fuel and building blocks for countless metabolic processes as well as the messenger molecules that steer these processes. Furthermore, these nitrogen-containing structures encode the alphabet needed to construct the genetic code. The pyrimidine pathway overlaps with the Urea Cycle through a common metabolite …

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