Associated Papers
Deubiquitinase USP19 extends the residual enzymatic activity of phenylalanine hydroxylase variants.
Sarodaya N et al.
Scientific Reports, 2022
Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria.
Himmelreich N et al.
Molecular Genetics and Metabolism, 2018
In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU.
Trunzo R et al.
Gene, 2016
Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency.
Karacić I et al.
Molecular Genetics and Metabolism, 2009
The molecular basis of phenylalanine hydroxylase deficiency in Croatia.
Zschocke J et al.
Human Mutation, 2003
Select a paper to view details