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Updated: May 21, 2026

A Novel Saturation Mutagenesis Approach: Single Step Characterization of Regulatory Protein Binding Sites in RNA Using Phosphorothioates
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Published on: August 21, 2018

Adenine phosphoribosyltransferase deficiency.

Guillaume Bollée1, Jérôme Harambat, Albert Bensman

  • 1Association pour l'Utilisation du Rein Artificiel and Inserm U970, Paris, France. gbollee@gmail.com

Clinical Journal of the American Society of Nephrology : CJASN
|June 16, 2012
PubMed
Summary

Complete adenine phosphoribosyltransferase (APRT) deficiency causes 2,8-dihydroxyadenine (DHA) stones, leading to kidney damage. Early diagnosis and treatment are vital to prevent irreversible renal function loss in this rare inherited metabolic disorder.

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