Associated Papers
The Generation of an Induced Pluripotent Stem Cell Line from a Patient with Phenylketonuria.
Yu I et al.
International Journal of Stem Cells, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
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
Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population-genetic approach.
Mikó Á et al.
Human Mutation, 2021
A noncoding RNA modulator potentiates phenylalanine metabolism in mice.
Li Y et al.
Science (new York, N.y.), 2021
In silico screening and molecular dynamics simulation of deleterious PAH mutations responsible for phenylketonuria genetic disorder.
Lopez A et al.
Proteins, 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
Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria.
Himmelreich N et al.
Molecular Genetics and Metabolism, 2018
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
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
Plasma cholesterol in adults with phenylketonuria.
Williams RA et al.
Pathology, 2015
Chronic kidney disease in adolescent and adult patients with phenylketonuria.
Hennermann JB et al.
Journal of Inherited Metabolic Disease, 2013
Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.
Anjema K et al.
Orphanet Journal of Rare Diseases, 2013
Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.
Quirk ME et al.
Molecular Genetics and Metabolism, 2012
Phenylketonuria: an inborn error of phenylalanine metabolism.
Williams RA et al.
The Clinical Biochemist. Reviews, 2008
Mutations in the regulatory domain of phenylalanine hydroxylase and response to tetrahydrobiopterin.
Wang L et al.
Genetic Testing, 2007
Inter-individual variation in brain phenylalanine concentration in patients with PKU is not caused by genetic variation in the 4F2hc/LAT1 complex.
Møller LB et al.
Molecular Genetics and Metabolism, 2005
Comparative multiplex dosage analysis detects whole exon deletions at the phenylalanine hydroxylase locus.
Gable M et al.
Human Mutation, 2003
Mutational spectrum in German patients with phenylalanine hydroxylase deficiency.
Aulehla-Scholz C et al.
Human Mutation, 2003
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
Effect of genotype on changes in intelligence quotient after dietary relaxation in phenylketonuria and hyperphenylalaninaemia.
Greeves LG et al.
Archives of Disease in Childhood, 2000
Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations.
Hennermann JB et al.
Human Mutation, 2000
Mutation screening of phenylketonuria in the Far East of Russia.
Sueoka H et al.
Journal of Human Genetics, 1999
Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria.
Fusetti F et al.
The Journal of Biological Chemistry, 1998
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
Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal.
Rivera I et al.
Journal of Medical 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
In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function.
Waters PJ et al.
Human Mutation, 1998
Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH).
Waters PJ et al.
Human Mutation, 1998
Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.
Kayaalp E et al.
American Journal of Human Genetics, 1997
Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations.
Kozák L et al.
Journal of Medical Genetics, 1997
Phenylketonuria and the peoples of Northern Ireland.
Zschocke J et al.
Human Genetics, 1997
[Mutation of the phenylalanine hydroxylase gene in the population of central Bohemia. Relation to the clinical picture of phenylketonuria].
Růzicková S et al.
Casopis Lekaru Ceskych, 1997
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
PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme.
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
PKU mutation (D143G) associated with an apparent high residual enzyme activity: expression of a kinetic variant form of phenylalanine hydroxylase in three different systems.
Knappskog PM et al.
Human Mutation, 1996
Polymorphism in the 3' untranslated region of the phenylalanine hydroxylase gene detected by enzyme mismatch cleavage: evolution of haplotypes.
Ramus SJ et al.
Human Genetics, 1995
Phenylketonuria mutation analysis in Northern Ireland: a rapid stepwise approach.
Zschocke J et al.
American Journal of Human Genetics, 1995
Characterization of phenylalanine hydroxylase alleles in untreated phenylketonuria patients from Victoria, Australia: origin of alleles and haplotypes.
Ramus SJ et al.
American Journal of Human Genetics, 1995
Science, medicine and phenylketonuria.
Scriver CR
Acta Paediatrica (oslo, Norway : 1992). Supplement, 1994
Preliminary mutation analysis in the phenylalanine hydroxylase gene in Greek PKU and HPA patients.
Traeger-Synodinos J et al.
Human Genetics, 1994