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Xanthinuria

Known as: Increased urinary xanthine 
An increased concentration of xanthine in the urine. [HPO:gcarletti]
National Institutes of Health

Related topics

Related topics

1 relation
congenital deficiency

Papers overview

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Highly Cited
2000
Highly Cited
2000
Deletion Mutation in Drosophila ma-l Homologous, Putative Molybdopterin Cofactor Sulfurase Gene Is Associated with Bovine Xanthinuria Type II*
Defective xanthine dehydrogenase (XDH) activity in humans results in xanthinuria and xanthine calculus accumulation in kidneys… 
Review
1999
Review
1999
Diagnosis of molybdenum cofactor deficiency
1991
1991
Renal sonography in long standing Lesch-Nyhan syndrome.
1984
1984
Biochemical studies on the purine metabolism of four cases with hereditary xanthinuria.
The purine metabolism of four cases with marked hypouricemia (serum uric acid concentration of less than 0.018 mmol/l) from three… 
1979
1979
Hypouricemia and malignant neoplasms. A new case of xanthinuria.
An 80-year-old man with squamous cell carcinoma of the parotid gland was noted to have persistent severe hypouricemia with serum… 
Highly Cited
1978
Highly Cited
1978
Allopurinol and Other Inhibitors of Urate Synthesis
The ideal drug for the treatment of hyperuricemia would be one which reduces uric acid synthesis without interfering with… 
Review
1976
Review
1976
Uric acid metabolism in man.
1974
1974
The clinical significance of hypouricemia.
1973
1973
Xanthinuria in a large kindred.
Xanthinuria is a rare hereditary disorder characterized by a gross deficiency of xanthine oxidase activity in tissues with a… 
1971
1971
Xanthinuria: an additional case with demonstration of xanthine oxidase deficiency.
An additional patient with xanthinuria, the ninth on record, is presented. Xanthine oxidase deficiency was proven in the small… 
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