Associated Papers
Genomic profiling, implications for genotype-based treatment of 131 patients with phenylketonuria and characterization of novel p.Pro416Leu PAH variant.
Klaassen K et al.
Scientific Reports, 2025
Genetic etiology and clinical challenges of phenylketonuria.
Elhawary NA et al.
Human Genomics, 2022
Functional Characterization of Novel Phenylalanine Hydroxylase p.Gln226Lys Mutation Revealed Its Non-responsiveness to Tetrahydrobiopterin Treatment in Hepatoma Cellular Model.
Klaassen K et al.
Biochemical Genetics, 2018
Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria.
Himmelreich N et al.
Molecular Genetics and Metabolism, 2018
A novel common large genomic deletion and two new missense mutations identified in the Romanian phenylketonuria population.
Gemperle-Britschgi C et al.
Gene, 2016
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