Disorders of purine and pyrimidine metabolism

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Abstract

Inborn errors exist of the biosynthetic, interconversion, catabolic, and salvage pathways of purine and pyrimidine metabolism, which are depicted in Figs. 36.1, 36.2 and 36.3, respectively.

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Van Den Berghe, G., Vincent, M. F., & Marie, S. (2012). Disorders of purine and pyrimidine metabolism. In Inborn Metabolic Diseases: Diagnosis and Treatment (pp. 499–518). Springer Berlin Heidelberg. https://doi.org/10.1007/978-3-642-15720-2_36

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