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Article

Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I.

Clinica chimica acta; international journal of clinical chemistry - 18 Jan 2012

Stiburkova Blanka, Krijt Jakub, Vyletal Petr, Bartl Josef, Gerhatova Eva, Korinek Martin, Sebesta Ivan

Abstract excerpt

BACKGROUND: The article describes the clinical, biochemical, enzymological and molecular genetics findings in two patients from two families with xanthinuria type I. METHODS: Biochemical analysis using high performance liquid chromatography, allopurinol loading test and analysis of xanthine oxidase activity in plasma and of uromodulin excretion in urine were performed. Sequencing analysis of the xanthine...

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PMID: 21963464
DOI: 10.1016/j.cca.2011.08.038

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