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Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females

16 Mar 2018

Abstract excerpt

Objectives: Phosphoribosylpyrophosphate synthetase (PRPS1) superactivity is an X-linked disorder characterized by urate overproduction Online Mendelian Inheritance in Man (OMIM) gene reference 300661. This condition is thought to rarely affect women, and when it does, the clinical presentation is mild. We describe a 16-year-old African American female who developed progressive tophi, nephrolithiasis and acute...

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PMID: 30423175
DOI: 10.1093/rheumatology/key041

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