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

@article{Stiburkova2012NovelMI,
  title={Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I.},
  author={B Stiburkova and Jakub Krijt and Petr Vyleťal and Josef B{\'a}rtl and Eva Gerhatova and Martin Korinek and Ivan {\vS}ebesta},
  journal={Clinica chimica acta; international journal of clinical chemistry},
  year={2012},
  volume={413 1-2},
  pages={93-9}
}
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 dehydrogenase gene and the haplotype and statistical analyses of consanguinity were… CONTINUE READING
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