title: Clinical and biochemical findings in six patients with pyrimidine degradation defects.
authors.affiliation: Academic Medical Center (AMC) Amsterdam, Division of Pediatrics, The Netherlands.
authors.forename: A H
authors.initials: AH
authors.lastname: van Gennip
authors.forename: N G
authors.initials: NG
authors.lastname: Abeling
authors.forename: A E
authors.initials: AE
authors.lastname: Stroomer
authors.forename: H
authors.initials: H
authors.lastname: van Lenthe
authors.forename: H D
authors.initials: HD
authors.lastname: Bakker
mesh_terms: D000581:Amidohydrolases / Q000172:deficiency*; D000596:Amino Acids / Q000652:urine; D002851:Chromatography, High Pressure Liquid; D002855:Chromatography, Thin Layer; D042943:Dihydrouracil Dehydrogenase (NADP); D004827:Epilepsy / Q000209:etiology; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D010088:Oxidoreductases / Q000172:deficiency*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000150:complications / Q000201:enzymology / Q000378:metabolism*; D011743:Pyrimidines / Q000652:urine
chemical_list: D000596:Amino Acids; D011743:Pyrimidines; D010088:Oxidoreductases; D042943:Dihydrouracil Dehydrogenase (NADP); D000581:Amidohydrolases; C020047:dihydropyrimidinase