Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark

Keyphrases

• Denmark 100%
• Phenylketonuria 100%
• Phenotypical 100%
• Phenylalanine Hydroxylase Deficiency 100%
• Frequent mutation 33%
• Genotype 16%
• Metabolic Phenotype 16%
• Novel mutation 16%
• Phenotypic Outcome 16%
• Classical Phenylketonuria 16%
• Hyperphenylalaninemia 16%

Biochemistry, Genetics and Molecular Biology

• Phenylketonuria 100%
• Phenylalanine Hydroxylase 100%
• Allele 42%

Neuroscience

• Phenylalanine 4 Monooxygenase 100%