ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.
van Kuilenburg, André B P
ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients. [electronic resource] - Biochimica et biophysica acta Jul 2012 - 1096-108 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0006-3002
10.1016/j.bbadis.2012.04.001 doi
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
ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients. [electronic resource] - Biochimica et biophysica acta Jul 2012 - 1096-108 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0006-3002
10.1016/j.bbadis.2012.04.001 doi
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