Urolithiasis due to Hereditary Xanthinuria Type II: A Long-term Follow-up report
Sign Up to like & getrecommendations! 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
Xanthinuria Type 1 with a Novel Mutation in Xanthine Dehydrogenase and a Normal Endothelial Function
Sign Up to like & getrecommendations! Published in 2022 at "Internal Medicine"
DOI: 10.2169/internalmedicine.7897-21
Abstract: Whether or not extremely low levels of serum uric acid (SUA) in xanthinuria are associated with impairment of the endothelial function and exercise-induced acute kidney injury (EIAKI) is unclear. A 59-year-old woman without EIAKI or… read more here.
Keywords: xanthinuria type; xanthine dehydrogenase; endothelial function; normal endothelial ... See more keywords