Inborn errors of purine and pyrimidine metabolism comprise essentially deficiencies or overactive enzymes. Many enzymes have isoforms, the mutations of which are responsible for different phenotypes. Given that many purine and pyrimidine metabolism disorders share similar clinical findings, all these defects are presented in this chapter according to the preponderant clinical signs at presentation.
CITATION STYLE
Marie, S., Dewulf, J. P., & Nassogne, M. C. (2022). Disorders of purine and pyrimidine metabolism. In Inborn Metabolic Diseases: Diagnosis and Treatment (pp. 587–614). Springer Berlin Heidelberg. https://doi.org/10.1007/978-3-662-63123-2_32
Mendeley helps you to discover research relevant for your work.