title: Confirmation of the enzyme defect in the first case of beta-ureidopropionase deficiency. Beta-alanine deficiency.
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: H
authors.initials: H
authors.lastname: van Lenthe
authors.forename: G G
authors.initials: GG
authors.lastname: Ratmann
authors.forename: B
authors.initials: B
authors.lastname: Assmann
authors.forename: G F
authors.initials: GF
authors.lastname: Hoffmann
authors.forename: C
authors.initials: C
authors.lastname: Brautigam
authors.forename: A H
authors.initials: AH
authors.lastname: van Gennip
mesh_terms: D000015:Abnormalities, Multiple / Q000201:enzymology; D000581:Amidohydrolases / Q000172:deficiency*; D042943:Dihydrouracil Dehydrogenase (NADP); D005260:Female; D006801:Humans; D007223:Infant; D010088:Oxidoreductases / Q000378:metabolism; D015091:beta-Alanine / Q000172:deficiency*
chemical_list: D015091:beta-Alanine; D010088:Oxidoreductases; D042943:Dihydrouracil Dehydrogenase (NADP); D000581:Amidohydrolases; C021590:beta-ureidopropionase