گزانتینوری
Sign in to saveAlso known as xanthine dehydrogenase deficiency, xanthine oxidase deficiency, Classic xanthinuria, Xanthine stone disease, Xanthic urolithiasis
Xanthinuria, also known as xanthine oxidase deficiency, is a rare genetic disorder causing the accumulation of xanthine. It is caused by a deficiency of the enzyme xanthine oxidase.
Research
264 papers- Xanthinuria.British medical journal · 1959
- [Xanthinuria].Ryoikibetsu shokogun shirizu · 1997
- Candidate causative variant for xanthinuria in a Domestic Shorthair cat.Animal genetics · 2023
- Association of Mutations Identified in Xanthinuria with the Function and Inhibition Mechanism of Xanthine Oxidoreductase.Biomedicines · 2021
- Xanthinuria and pregnancy.Lancet (London, England) · 1977
via PubMed
Wikidata facts
Show 5 more facts
- genetic association
- XDH
- health specialty
- endocrinology
- exact match
- www.orpha.net/ORDO/Orphanet_3467
- ICD-9-CM
- 277.2
- on focus list of Wikimedia project
- WikiProject Medicine
Sources (2)
via Wikidata · CC0