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Article

Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Sept 2001

Edvardsson V, Palsson R, Olafsson I, Hjaltadottir G, Laxdal T

Abstract excerpt

The purpose of this study was to characterize the clinical, diagnostic, and prognostic features of adenine phosphoribosyltransferase (APRT) deficiency in Icelandic patients, as well as determine their genotype. Medical records of all known patients in Iceland were reviewed. Urinalysis and polymerase chain reaction-based DNA mutation analysis were performed in all patients, siblings, and living parents of index...

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Source

Identifiers

PMID: 11532677
DOI: 10.1053/ajkd.2001.26826

Genes

APRT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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