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Article

Xanthinuria type I: a rare cause of urolithiasis.

Pediatric nephrology (Berlin, Germany) - 1 Feb 2007

Arikyants Nina, Sarkissian Ashot, Hesse Albrecht, Eggermann Thomas, Leumann Ernst, Steinmann Beat

Abstract excerpt

Xanthinuria type I is a rare disorder of purine metabolism caused by xanthine oxidoreductase or dehydrogenase (XDH) deficiency. We report a family with two affected children out of 335 pediatric stone patients studied since 1991 in Armenia. The propositus, a 13-month-old boy, presented with abdominal pain and urinary retention followed by stone passage (0.9x0.6 cm). Infrared spectroscopy in Yerevan revealed a...

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Source

Identifiers

PMID: 17115198
DOI: 10.1007/s00467-006-0267-3

Genes

XDH

Variants

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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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