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