Condition: Hyperphenylalaninaemia


rs199475602 in PAH gene and Hyperphenylalaninaemia PMID 23500595 2013 Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.

PMID 23764561 2013 Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness.

PMID 12501224 2002 Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.

PMID 23430547 2013 Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S.

PMID 17096675 2007 Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.

PMID 21147011 2011 Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.

PMID 17935162 2008 Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

PMID 26666653 2015 Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.

PMID 19292873 2009 Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy.

PMID 10479481 1999 The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency.

PMID 23792259 2013 Mutation analysis in hyperphenylalaninemia patients from South Italy.

PMID 23357515 2013 Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations.

PMID 16198137 2005 Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients.

PMID 24368688 2014 The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.

PMID 8533759 1995 Phenylketonuria mutation analysis in Northern Ireland: a rapid stepwise approach.

PMID 9298832 1997 Mutations of the phenylalanine hydroxylase gene in mild hyperphenylalaninemia: a novel mutation in exon 3.

PMID 22698810 2012 Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11.

PMID 18294361 2008 A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population.

PMID 9634518 1998 A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.

PMID 24350308 2013 Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness.

PMID 24401910 2014 The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population.

PMID 8659548 1996 Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.

PMID 26503515 2015 Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.

PMID 18299955 2008 Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene.

PMID 25596310 2015 Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.