TY  - GEN
AU  - van Kuilenburg,André B P
AU  - Dobritzsch,Doreen
AU  - Meijer,Judith
AU  - Krumpel,Michael
AU  - Selim,Laila A
AU  - Rashed,Mohamed S
AU  - Assmann,Birgit
AU  - Meinsma,Rutger
AU  - Lohkamp,Bernhard
AU  - Ito,Tetsuya
AU  - Abeling,Nico G G M
AU  - Saito,Kayoko
AU  - Eto,Kaoru
AU  - Smitka,Martin
AU  - Engvall,Martin
AU  - Zhang,Chunhua
AU  - Xu,Wang
AU  - Zoetekouw,Lida
AU  - Hennekam,Raoul C M
TI  - ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients
SN  - 0006-3002
PY  - 2012///1015
KW  - Adult
KW  - Amidohydrolases
KW  - deficiency
KW  - Amino Acid Sequence
KW  - Amino Acid Substitution
KW  - physiology
KW  - Aminoisobutyric Acids
KW  - blood
KW  - Animals
KW  - Biocatalysis
KW  - Catalytic Domain
KW  - Central Nervous System Diseases
KW  - enzymology
KW  - Child
KW  - Child, Preschool
KW  - Drosophila melanogaster
KW  - Escherichia coli
KW  - Female
KW  - Genotype
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Models, Molecular
KW  - Molecular Sequence Data
KW  - Mutagenesis, Site-Directed
KW  - Mutation, Missense
KW  - Point Mutation
KW  - Protein Conformation
KW  - Protein Interaction Domains and Motifs
KW  - Purine-Pyrimidine Metabolism, Inborn Errors
KW  - Pyrimidines
KW  - metabolism
KW  - Racial Groups
KW  - genetics
KW  - beta-Alanine
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.bbadis.2012.04.001
ER  -