Also 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.
via PubMed
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.
It was first formally characterized in 1954.
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).