Associated Papers
Deubiquitinase USP19 extends the residual enzymatic activity of phenylalanine hydroxylase variants.
Sarodaya N et al.
Scientific Reports, 2022
The molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectra.
Su Y et al.
Annals of Translational Medicine, 2019
Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations.
Scheller R et al.
Human Mutation, 2019
Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria.
Himmelreich N et al.
Molecular Genetics and Metabolism, 2018
Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.
Bueno MA et al.
Journal of Human Genetics, 2013
Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.
Shi Z et al.
Proteins, 2012
Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria.
Trefz FK et al.
Journal of Inherited Metabolic Disease, 2009
PKU in Minas Gerais State, Brazil: mutation analysis.
Santos LL et al.
Annals of Human Genetics, 2008
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Zurflüh MR et al.
Human Mutation, 2008
Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.
Daniele A et al.
Annals of Human Genetics, 2007
Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin.
Bélanger-Quintana A et al.
Molecular Genetics and Metabolism, 2005
Tetrahydrobiopterin responsiveness in patients with phenylketonuria.
Pérez-Dueñas B et al.
Clinical Biochemistry, 2004
Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH.
Pey AL et al.
Human Mutation, 2003
Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions.
Desviat LR et al.
European Journal of Human Genetics : Ejhg, 1999
PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.
Nowacki PM et al.
Nucleic Acids Research, 1998
Analysis of the phenylalanine hydroxylase gene in the Spanish population: mutation profile and association with intragenic polymorphic markers.
Pérez B et al.
American Journal of Human Genetics, 1997
Identical SRY mutations with different phenotypic effects.
Mittwoch U
American Journal of Human Genetics, 1993
Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype.
Desviat LR et al.
Molecular Genetics and Metabolism, 0