Associated Papers
Developing iPSC models from phenylketonuria patients with varying PAH gene mutations.
Veleva D et al.
Stem Cell Research, 2026
Expanding diversity within phenylketonuria in ecuadorian patients: genetic analysis and literature review of newborn screenings.
Aguirre AS et al.
Bmc Pediatrics, 2024
In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening.
Vela-Amieva M et al.
Children (basel, Switzerland), 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
Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo 1H-NMR Analysis.
Cannet C et al.
Molecules (basel, Switzerland), 2023
Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions.
Wilhelm K et al.
Frontiers in Genetics, 2022
An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations.
Vela-Amieva M et al.
Genes, 2021
The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene.
Kuznetcova I et al.
Metabolic Brain Disease, 2019
Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil.
Vieira Neto E et al.
Molecular Genetics & Genomic Medicine, 2018
Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.
Aldámiz-Echevarría L et al.
Journal of Human Genetics, 2016
Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial.
Ney DM et al.
The American Journal of Clinical Nutrition, 2016
Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect.
Vela-Amieva M et al.
Clinical Genetics, 2015
The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.
Ho G et al.
Jimd Reports, 2014
Diurnal variation of phenylalanine and tyrosine concentrations in adult patients with phenylketonuria: subcutaneous microdialysis is no adequate tool for the determination of amino acid concentrations.
Grünert SC et al.
Nutrition Journal, 2013
Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.
Bueno MA et al.
Journal of Human Genetics, 2013
Spectrum of mutations in Lebanese patients with phenylalanine hydroxylase deficiency.
Karam PE et al.
Gene, 2013
Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.
Quirk ME et al.
Molecular Genetics and Metabolism, 2012
START, a double blind, placebo-controlled pharmacogenetic test of responsiveness to sapropterin dihydrochloride in phenylketonuria patients.
Utz JR et al.
Molecular Genetics and Metabolism, 2012
Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?
Sarkissian CN et al.
Jimd Reports, 2012
Investigation of parameters that affect the success rate of microarray-based allele-specific hybridization assays.
Poulsen L et al.
Plos One, 2011
Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients.
Dobrowolski SF et al.
Journal of Inherited Metabolic Disease, 2009
BH4 responsiveness associated to a PKU mutation with decreased binding affinity for the cofactor.
Aguado C et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2007
Mutational spectrum in German patients with phenylalanine hydroxylase deficiency.
Aulehla-Scholz C et al.
Human Mutation, 2003