Associated Papers
A Rare Combination of Compound Heterozygous Mutations in the PAH Gene in Three Unrelated Consanguineous Iranian Families with Classical Phenylketonuria.
Rahimzadeh A et al.
Advanced Biomedical Research, 2024
Mutational landscape of phenylketonuria in Iran.
Ajami N et al.
Journal of Cellular and Molecular Medicine, 2023
In silico screening and molecular dynamics simulation of deleterious PAH mutations responsible for phenylketonuria genetic disorder.
Lopez A et al.
Proteins, 2021
Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review.
Alibakhshi R et al.
Metabolic Brain Disease, 2021
Neonatal phenylalanine wash-out in phenylketonuria.
Porta F et al.
Metabolic Brain Disease, 2020
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
Spectrum of Phenylalanine Hydroxylase Gene Mutations in Hamadan and Lorestan Provinces of Iran and Their Associations with Variable Number of Tandem Repeat Alleles.
Alibakhshi R et al.
Iranian Journal of Medical Sciences, 2018
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
Mutation analysis of the phenylalanine hydroxylase gene in Azerbaijani population, a report from West Azerbaijan province of Iran.
Bagheri M et al.
Iranian Journal of Basic Medical Sciences, 2015
Association Between PAH Mutations and VNTR Alleles in the West Azerbaijani PKU Patients.
Bagheri M et al.
Maedica, 2014
Mutation spectrum of phenylketonuria in Iranian population.
Zare-Karizi Sh et al.
Molecular Genetics and Metabolism, 2011
Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency.
Ponzone A et al.
Metabolism: Clinical and Experimental, 2010
Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening.
Maier EM et al.
Human Molecular Genetics, 2009
Impact of neonatal protein metabolism and nutrition on screening for phenylketonuria.
Ponzone A et al.
Journal of Pediatric Gastroenterology and Nutrition, 2008
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Zurflüh MR et al.
Human Mutation, 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
Somatic mitochondrial DNA mutations in neurofibromatosis type 1-associated tumors.
Kurtz A et al.
Molecular Cancer Research : Mcr, 2004
Phenylketonuria in Iranian population: a study in institutions for mentally retarded in Isfahan.
Vallian S et al.
Mutation Research, 2003
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
Phenylalanine and tyrosine metabolism in phenylketonuria heterozygotes: influence of different phenylalanine hydroxylase mutations.
Spada M et al.
Journal of Inherited Metabolic Disease, 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
Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.
Kayaalp E et al.
American Journal of Human Genetics, 1997
Phenylketonuria mutation analysis in Northern Ireland: a rapid stepwise approach.
Zschocke J et al.
American Journal of Human Genetics, 1995
Discordant phenylketonuria phenotypes in one family: the relationship between genotype and clinical outcome is a function of multiple effects.
Tyfield LA et al.
Journal of Medical Genetics, 1995
Characterization of phenylketonuria alleles in the Italian population.
Dianzani I et al.
European Journal of Human Genetics : Ejhg, 1995
Mutation analysis of the phenylalanine hydroxylase gene using heteroduplex analysis with synthetic DNA constructs.
Tyfield LA et al.
Acta Paediatrica (oslo, Norway : 1992). Supplement, 1994