Confirmation of the enzyme defect in the first case of beta-ureidopropionase deficiency. Beta-alanine deficiency

Adv Exp Med Biol. 2000:486:243-6. doi: 10.1007/0-306-46843-3_47.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / enzymology
  • Amidohydrolases / deficiency*
  • Dihydrouracil Dehydrogenase (NADP)
  • Female
  • Humans
  • Infant
  • Oxidoreductases / metabolism
  • beta-Alanine / deficiency*

Substances

  • beta-Alanine
  • Oxidoreductases
  • Dihydrouracil Dehydrogenase (NADP)
  • Amidohydrolases
  • beta-ureidopropionase