Keyphrases
Academic Hospital
7%
BH 4
100%
Binding Affinity
7%
Biochemical Genetics
7%
Cellular Expression
7%
Clinical Significance
7%
Deficiency State
100%
Eukaryotic Cells
7%
Expressed Protein
7%
Expression System
7%
Gain-of-function mutation
7%
Gene Expression
7%
Genotype
15%
Hyperphenylalaninemia
7%
In Vitro Activity
7%
Load Test
7%
Maastricht
7%
Missense mutation
7%
Mutant Enzyme
7%
Netherlands
7%
Number of Patients
7%
Optimal Dose
7%
Phenylalanine
7%
Phenylalanine Hydroxylase
38%
Phenylalanine Hydroxylase Deficiency
100%
Phenylalanine Hydroxylase Gene
15%
Phenylalanine Level
7%
PKU Diet
7%
Protein Loss
7%
Residual Activity
7%
Structural Distortion
7%
Tetrahydrobiopterin
100%
Western Countries
7%
INIS
affinity
8%
biosynthesis
8%
concentration
8%
data
8%
diet
8%
enzymes
16%
genes
16%
genetics
8%
genotype
16%
harbors
8%
hospitals
8%
hydroxylase
100%
in vitro
25%
in vivo
8%
increasing
8%
levels
8%
loading
8%
losses
8%
manufacturers
8%
mutants
16%
mutations
33%
netherlands
8%
newborns
8%
patients
66%
phenotype
8%
phenylalanine
100%
plasma
8%
proteins
16%
purity
8%
safety
8%
screening
8%
stabilization
8%
Biochemistry, Genetics and Molecular Biology
Anabolism
10%
Binding Affinity
10%
Blood Plasma
10%
Clinical Study
10%
Enzyme
20%
Gene Expression
10%
Gene Expression System
10%
Genetics
10%
Genotyping
10%
Loss of Function Mutation
10%
Missense Mutation
10%
Optimal Drug Dose
10%
Phenylalanine
20%
Phenylalanine Hydroxylase
100%
Sapropterin
100%
Neuroscience
Anabolism
10%
Binding Affinity
10%
Blood Plasma
10%
Gene Expression
10%
Gene Expression System
10%
In Vitro
30%
In Vivo
10%
Loss of Function Mutation
10%
Missense Mutation
10%
Phenylalanine
20%
Phenylalanine 4 Monooxygenase
100%
Sapropterin
100%
Nursing and Health Professions
Hyperphenylalaninemia
10%
Loading Test
10%
Optimal Drug Dose
10%
Phenylalanine
20%
Phenylalanine 4 Monooxygenase
100%
Phenylketonuria
30%
Protein Depletion
10%
Sapropterin
100%
Pharmacology, Toxicology and Pharmaceutical Science
Clinical Study
10%
Hyperphenylalaninemia
10%
Phenylalanine
20%
Phenylalanine 4 Monooxygenase
100%
Phenylketonuria
30%
Sapropterin
100%