title: Dihydropyrimidinase deficiency: confirmation of the enzyme defect in dihydropyrimidinuria.
authors.affiliation: Academic Medical Center, Department of Pediatrics, Amsterdam, The Netherlands.
authors.forename: A H
authors.initials: AH
authors.lastname: van Gennip
authors.forename: R A
authors.initials: RA
authors.lastname: de Abreu
authors.forename: H
authors.initials: H
authors.lastname: van Lenthe
authors.forename: J
authors.initials: J
authors.lastname: Bakkeren
authors.forename: J
authors.initials: J
authors.lastname: Rotteveel
authors.forename: P
authors.initials: P
authors.lastname: Vreken
authors.forename: A B
authors.initials: AB
authors.lastname: van Kuilenburg
mesh_terms: D000581:Amidohydrolases / Q000172:deficiency* / Q000235:genetics; D002851:Chromatography, High Pressure Liquid; D016057:Evoked Potentials, Auditory, Brain Stem / Q000502:physiology; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008099:Liver / Q000737:chemistry / Q000201:enzymology; D011743:Pyrimidines / Q000652:urine*
chemical_list: D011743:Pyrimidines; D000581:Amidohydrolases; C020047:dihydropyrimidinase