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Article

Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.

Journal of the American Society of Nephrology : JASN - 1 Apr 2010

Bollée Guillaume, Dollinger Cécile, Boutaud Lucile, Guillemot Delphine, Bensman Albert, Harambat Jérôme, Deteix Patrice, Daudon Michel, Knebelmann Bertrand, Ceballos-Picot Irène

Abstract excerpt

Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder causing 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation. Little is known regarding the clinical presentation of APRT deficiency, especially in the white population. We retrospectively reviewed all 53 cases of APRT deficiency (from 43 families) identified at a single...

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Identifiers

PMID: 20150536
DOI: 10.1681/ASN.2009080808
PMCID: PMC2844298

Genes

APRT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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