Articles with "hereditary xanthinuria" as a keyword



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Urolithiasis due to Hereditary Xanthinuria Type II: A Long-term Follow-up report

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Published in 2020 at "Indian Pediatrics"

DOI: 10.1007/s13312-020-1825-7

Abstract: Hereditary xanthinuria (HX) is a rare autosomal recessive disorder of purine metabolism. It results from deficiency of the enzyme ‘xanthine dehydrogenase/oxidase (XDH/XO)’ which catalyzes the final two steps in the purine degradation pathway (conversion of… read more here.

Keywords: xanthinuria type; long term; due hereditary; hereditary xanthinuria ... See more keywords