Clinical features and genotype of adenine phosphoribosyltransferase deficiency in Iceland
Author:
Publisher
Elsevier BV
Subject
Nephrology
Reference28 articles.
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5. 2,8- Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT;Deng;Mol Genet Metab,2001
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