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Article

Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient.

Journal of inherited metabolic disease - 1 Dec 2010

Jurecka Agnieszka, Stiburkova Blanka, Krijt Jakub, Gradowska Wanda, Tylki-Szymanska Anna

Abstract excerpt

UNLABELLED: This report describes the clinical, biochemical and molecular data of a 78-year-old patient with xanthine dehydrogenase deficiency presenting as rheumatoid arthritis. BACKGROUND: Xanthinuria type I is a rare disorder of purine metabolism caused by xanthine dehydrogenase (XDH) deficiency; fewer than 150 cases have been described in the literature so far. METHODS: We describe the clinical history and...

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Source

Identifiers

PMID: 20077140
DOI: 10.1007/s10545-009-9011-z

Genes

XDH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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