title: Defects of pyrimidine degradation: clinical, molecular and diagnostic aspects.
authors.affiliation: Academic Medical Center, University of Amsterdam, Emma Children's Hospital, The Netherlands.
authors.forename: A H
authors.initials: AH
authors.lastname: van Gennip
authors.forename: A B
authors.initials: AB
authors.lastname: van Kuilenburg
mesh_terms: D000612:4-Aminobutyrate Transaminase / Q000172:deficiency*; D000581:Amidohydrolases / Q000172:deficiency*; D042943:Dihydrouracil Dehydrogenase (NADP); D006801:Humans; D009154:Mutation; D010088:Oxidoreductases / Q000172:deficiency*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D011743:Pyrimidines / Q000378:metabolism*; D000637:Transaminases / Q000172:deficiency*
chemical_list: D011743:Pyrimidines; D010088:Oxidoreductases; D042943:Dihydrouracil Dehydrogenase (NADP); D000637:Transaminases; D000612:4-Aminobutyrate Transaminase; C019685:D-3-aminoisobutyrate-pyruvate aminotransferase; D000581:Amidohydrolases; C021590:beta-ureidopropionase; C020047:dihydropyrimidinase; C030986:pyrimidine