ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients. [electronic resource]
Producer: 20121015Description: 1096-108 p. digitalISSN:- 0006-3002
- Adult
- Amidohydrolases -- deficiency
- Amino Acid Sequence
- Amino Acid Substitution -- physiology
- Aminoisobutyric Acids -- blood
- Animals
- Biocatalysis
- Catalytic Domain -- physiology
- Central Nervous System Diseases -- enzymology
- Child
- Child, Preschool
- Drosophila melanogaster
- Escherichia coli
- Female
- Genotype
- Humans
- Infant
- Infant, Newborn
- Male
- Models, Molecular
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Mutation, Missense
- Point Mutation
- Protein Conformation
- Protein Interaction Domains and Motifs -- physiology
- Purine-Pyrimidine Metabolism, Inborn Errors -- enzymology
- Pyrimidines -- metabolism
- Racial Groups -- genetics
- beta-Alanine -- blood
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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