title: Combined deficiencies of NADPH- and NADH-dependent dihydropyrimidine dehydrogenases, a new finding in a family with thymine-uraciluria.
authors.affiliation: Academic Medical Center, Department of Paediatrics, Amsterdam, The Netherlands.
authors.forename: A H
authors.initials: AH
authors.lastname: van Gennip
authors.forename: H
authors.initials: H
authors.lastname: van Lenthe
authors.forename: N G
authors.initials: NG
authors.lastname: Abeling
authors.forename: H D
authors.initials: HD
authors.lastname: Bakker
authors.forename: A B
authors.initials: AB
authors.lastname: van Kuilenburg
mesh_terms: D002675:Child, Preschool; D042943:Dihydrouracil Dehydrogenase (NADP); D005347:Fibroblasts / Q000201:enzymology; D006579:Heterozygote; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D009243:NAD / Q000378:metabolism*; D009249:NADP / Q000378:metabolism*; D010088:Oxidoreductases / Q000378:metabolism*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D013941:Thymine / Q000096:biosynthesis / Q000652:urine*; D014498:Uracil / Q000096:biosynthesis / Q000652:urine*
chemical_list: D009243:NAD; D009249:NADP; D014498:Uracil; D010088:Oxidoreductases; D042943:Dihydrouracil Dehydrogenase (NADP); D013941:Thymine