Genetic Variant underlying Xanthinuria in a population of Mu…

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  • OpenAlex ID W7126493989
  • Type Dissertation
  • Language EN
  • Published 01 Jan 2024
  • Source The Sydney eScholarship Repository (The …
  • Publisher The University of Sydney
  • Added 02 Feb 2026
  • Updated 25 Sep 2026
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Genetic Variant underlying Xanthinuria in a population of Munchkin cats

Dissertation 2024 EN

Hereditary xanthinuria is a genetic disorder of purine metabolism causing xanthinaemia and xanthine crystalluria. Type I xanthinuria is due to mutations in xanthine dehydrogenase (XDH). Type II xanthinuria is caused by mutations in molybdenum cofactor sulfurase (MOCOS). In cats, xanthinuria is a rare but clinically significant disease; however underlying genetic variants have not been described. F…

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1 Emily C Pritchard Corresponding —

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