title: Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutation.
authors.affiliation: Academic Medical Center, University of Amsterdam, Emma Children's Hospital, The Netherlands.
authors.forename: A B
authors.initials: AB
authors.lastname: Van Kuilenburg
authors.forename: P
authors.initials: P
authors.lastname: Vreken
authors.forename: D
authors.initials: D
authors.lastname: Riva
authors.forename: G
authors.initials: G
authors.lastname: Botteon
authors.forename: N G
authors.initials: NG
authors.lastname: Abeling
authors.forename: H D
authors.initials: HD
authors.lastname: Bakker
authors.forename: A H
authors.initials: AH
authors.lastname: Van Gennip
mesh_terms: D001120:Arginine / Q000235:genetics; D002675:Child, Preschool; D003545:Cysteine / Q000235:genetics; D042943:Dihydrouracil Dehydrogenase (NADP); D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010088:Oxidoreductases / Q000172:deficiency* / Q000235:genetics*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics
chemical_list: D001120:Arginine; D010088:Oxidoreductases; D042943:Dihydrouracil Dehydrogenase (NADP); D003545:Cysteine