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
Chromosomal analysis and short-term outcome of prenatally diagnosed congenital heart disease.
Verbeke M et al.
Scientific Reports, 2025
Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy.
Çıkı K et al.
Molecular Genetics and Metabolism, 2023
Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG).
Adams AD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing.
Tendi EA et al.
Biomedicines, 2023
Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study.
Rajabi F et al.
Molecular Genetics and Metabolism, 2019
Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.
Aldámiz-Echevarría L et al.
Journal of Human Genetics, 2016
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
Jeannesson-Thivisol E et al.
Orphanet Journal of Rare Diseases, 2015
Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.
Tao J et al.
Pediatric Research, 2015
Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria.
Wettstein S et al.
European Journal of Human Genetics : Ejhg, 2015
Mutation analysis of PAH gene in patients with PKU in western Iran and its association with polymorphisms: identification of four novel mutations.
Alibakhshi R et al.
Metabolic Brain Disease, 2014
Mutation analysis in hyperphenylalaninemia patients from South Italy.
Trunzo R et al.
Clinical Biochemistry, 2013
Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.
Bueno MA et al.
Journal of Human Genetics, 2013
Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?
Sarkissian CN et al.
Jimd Reports, 2012
Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants.
Daniele A et al.
Biochimica Et Biophysica Acta, 2008
A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population.
Bercovich D et al.
Annals of Human Genetics, 2008
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Zurflüh MR et al.
Human Mutation, 2008
Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene.
Bercovich D et al.
Journal of Human Genetics, 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
Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients.
Fiori L et al.
Molecular Genetics and Metabolism, 2005
Mutational spectrum in German patients with phenylalanine hydroxylase deficiency.
Aulehla-Scholz C et al.
Human Mutation, 2003
Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.
Muntau AC et al.
The New England Journal of Medicine, 2002