Associated Papers
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
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
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
Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.
Ferreira F et al.
Molecular Genetics & Genomic Medicine, 2021
Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients.
Tresbach RH et al.
Genes, 2020
Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study.
Rajabi F et al.
Molecular Genetics and Metabolism, 2019
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?
van Vliet D et al.
Nutrients, 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
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
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
In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU.
Trunzo R et al.
Gene, 2016
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
The complexity of newborn screening follow-up in phenylketonuria.
Hecht LE et al.
Jimd Reports, 2014
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
Neuroradiological findings of an adolescent with early treated phenylketonuria: is phenylalanine restriction enough?
Beckhauser MT et al.
Clinics and Practice, 2011
Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients.
Rivera I et al.
Molecular Genetics and Metabolism, 2011
Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency.
Nalin T et al.
Molecular Genetics and Metabolism, 2011
PKU in Minas Gerais State, Brazil: mutation analysis.
Santos LL et al.
Annals of Human Genetics, 2008
The mutation spectrum of hyperphenylalaninaemia in the Republic of Ireland: the population history of the Irish revisited.
O'Donnell KA et al.
European Journal of Human Genetics : Ejhg, 2002
Molecular analysis of phenylketonuria (PKU) in newborns from Texas.
Yang Y et al.
Human Mutation, 2001
Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria.
Jennings IG et al.
European Journal of Human Genetics : Ejhg, 2000
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.
Guldberg P et al.
American Journal of Human Genetics, 1998
PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.
Nowacki PM et al.
Nucleic Acids Research, 1998
Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience.
Carter KC et al.
European Journal of Human Genetics : Ejhg, 1998
Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.
Guldberg P et al.
American Journal of Human Genetics, 1996
Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway.
Eiken HG et al.
European Journal of Pediatrics, 1996
DGGE analysis as supplement to SSCP analysis of the phenylalanine hydroxylase gene: detection of eight (one de novo, seven inherited) of nine remaining Norwegian PKU mutations.
Eiken HG et al.
Human Mutation, 1996
Relative frequency, heterogeneity and geographic clustering of PKU mutations in Norway.
Eiken HG et al.
European Journal of Human Genetics : Ejhg, 1996
Phenylketonuria mutation analysis in Northern Ireland: a rapid stepwise approach.
Zschocke J et al.
American Journal of Human Genetics, 1995
Spectrum and origin of phenylketonuria mutations in Spain.
Pérez B et al.
Acta Paediatrica (oslo, Norway : 1992). Supplement, 1994
Mutation profiles of phenylketonuria in Quebec populations: evidence of stratification and novel mutations.
Rozen R et al.
American Journal of Human Genetics, 1994
Phenylketonuria in Spain: RFLP haplotypes and linked mutations.
Desviat LR et al.
Human Genetics, 1993
Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal.
Caillaud C et al.
Human Genetics, 1992
Analysis of exon 7 of the human phenylalanine hydroxylase gene: a mutation hot spot?
Dworniczak B et al.
Human Mutation, 1992