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Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism.

AuthorsS K Wadman, R Berger, M Duran, P K de Bree, S A Stoker-de Vries, F A Beemer, J J Weits-Binnerts, T J Penders, J K van der Woude
JournalJournal of inherited metabolic disease (J Inherit Metab Dis) Vol. 8 Suppl 2 Pg. 113-4 ( 1985) ISSN: 0141-8955 [Print] United States
PMID3930854 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Uracil
  • Oxidoreductases
  • Dihydrouracil Dehydrogenase (NADP)
  • Thymine
Topics
  • Child, Preschool
  • Dihydrouracil Dehydrogenase (NADP)
  • Humans
  • Male
  • Oxidoreductases (deficiency)
  • Purine-Pyrimidine Metabolism, Inborn Errors (metabolism)
  • Thymine (urine)
  • Uracil (urine)

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