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Inborn errors of purine and pyrimidine metabolism

15 Mar 2009

Abstract excerpt

Genetic disorders of purine and pyrimidine (PP) metabolism are under-reported and infrequently mentioned in the general literature, as well as in reviews dedicated to other inborn errors of metabolism. Owing to limited awareness, relatively recent recognition, as well as considerable phenotypic variation, these disorders may often be misdiagnosed or remain undiagnosed. Disorders that arise as a result of...

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PMID: 19291420
DOI: 10.1007/s10545-009-1094-z

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