[Uncommon purine lithiasis: adenine phosphoribosyltransferase (APRT) deficiency and hereditary xanthinuria]

Med Clin (Barc). 2002 Oct 19;119(13):508-15.
[Article in Spanish]
No abstract available

Publication types

  • Review

MeSH terms

  • Adenine Phosphoribosyltransferase / deficiency*
  • Adenine Phosphoribosyltransferase / genetics
  • Gene Expression Regulation, Enzymologic
  • Genotype
  • Humans
  • Lithiasis / diagnosis
  • Lithiasis / enzymology
  • Lithiasis / etiology*
  • Phenotype
  • Xanthine Dehydrogenase / deficiency*
  • Xanthine Dehydrogenase / genetics

Substances

  • Xanthine Dehydrogenase
  • Adenine Phosphoribosyltransferase