Associated Papers
Successful Management of Two Consecutive Pregnancies With Maternal-Fetal Phenylketonuria: Lessons From Clinical Practice.
Lundkvist P et al.
Jimd Reports, 2026
Proteasomal activity and disease outcome in phenylketonuria patients with a structural SLC7A5 variant.
Bik-Multanowski M et al.
Scientific Reports, 2025
Advancing Gene Therapy for Phenylketonuria: From Precision Editing to Clinical Translation.
Yu I et al.
International Journal of Molecular Sciences, 2025
The Influence of Phenylalanine Fluctuations and Intake on a 24 h Sapropterin Responsiveness Test in Patients with Phenylketonuria.
Nunes AJ et al.
Children (basel, Switzerland), 2025
Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants.
Lord J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
New challenges in management of phenylketonuria in pregnancy: a case report.
Ugalde-Abiega B et al.
Journal of Medical Case Reports, 2023
Molecular characterization of phenylketonuria patients from the North Region of Brazil: State of Pará.
Bonfim-Freitas PE et al.
Molecular Genetics & Genomic Medicine, 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
Blood phenylalanine fluctuation in phenylketonuric children treated by BH4 or low-phenylalanine diet from birth.
Theron M et al.
Scientific Reports, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Deubiquitinase USP19 extends the residual enzymatic activity of phenylalanine hydroxylase variants.
Sarodaya N et al.
Scientific Reports, 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
Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism.
Liu N et al.
Jama Network Open, 2021
Factors that increase risk for poor adherence to phenylketonuria treatment in Brazilian patients.
Teruya KI et al.
American Journal of Medical Genetics. Part A, 2021
In silico screening and molecular dynamics simulation of deleterious PAH mutations responsible for phenylketonuria genetic disorder.
Lopez A et al.
Proteins, 2021
Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.
Ferreira F et al.
Molecular Genetics & Genomic Medicine, 2021
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia.
Gallego D et al.
Human Mutation, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation.
Cannet C et al.
Orphanet Journal of Rare Diseases, 2020
Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study.
Oussalah A et al.
Ebiomedicine, 2020
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
Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study.
Rajabi F et al.
Molecular Genetics and Metabolism, 2019
The molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectra.
Su Y et al.
Annals of Translational Medicine, 2019
Genotype-phenotype correlations and BH4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil.
Vieira Neto E et al.
Molecular Genetics & Genomic Medicine, 2019
Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations.
Scheller R et al.
Human Mutation, 2019
Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria.
Garbade SF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Melanoma cases demonstrate increased carrier frequency of phenylketonuria/hyperphenylalanemia mutations.
Arbesman J et al.
Pigment Cell & Melanoma Research, 2018
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
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
"Mild" hyperphenylalaninemia? A case series of seven treated patients following newborn screening.
Viall S et al.
Molecular Genetics and Metabolism, 2017
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
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
Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect.
Vela-Amieva M et al.
Clinical Genetics, 2015
Computational study of missense mutations in phenylalanine hydroxylase.
Réblová K et al.
Journal of Molecular Modeling, 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
Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.
Danecka MK et al.
Journal of Medical Genetics, 2015
Plasma cholesterol in adults with phenylketonuria.
Williams RA et al.
Pathology, 2015
Molecular genetics and diagnosis of phenylketonuria: state of the art.
Blau N et al.
Expert Review of Molecular Diagnostics, 2014
Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study.
Leuders S et al.
Jimd Reports, 2014
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
Characterization of phenylalanine hydroxylase gene mutations in phenylketonuria in Xinjiang of China.
Yu W et al.
International Journal of Clinical and Experimental Medicine, 2014
Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness.
Polak E et al.
Gene, 2013
Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.
Anjema K et al.
Orphanet Journal of Rare Diseases, 2013
Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.
Couce ML et al.
Gene, 2013
Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.
Bueno MA et al.
Journal of Human Genetics, 2013
Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness.
Bik-Multanowski M et al.
Acta Biochimica Polonica, 2013