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 SDGsAuthors & Affiliations
1 authors| # | Author | Institutions | ORCID |
|---|---|---|---|
| 1 | Emily C Pritchard Corresponding | — |
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