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
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.
Liu N et al.
Bmc Medical Genetics, 2018
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.
Liu N et al.
Bmc Medical Genetics, 2017
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
Prenatal diagnosis of Chinese families with phenylketonuria.
Liu N et al.
Genetics and Molecular Research : Gmr, 2015
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience.
Scala I et al.
Orphanet Journal of Rare Diseases, 2015
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
Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population.
Zhu T 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
Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?
Sarkissian CN et al.
Jimd Reports, 2012
Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy.
Daniele A et al.
The Febs Journal, 2009
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
Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria.
Cerone R et al.
Molecular Genetics and Metabolism, 2004
Mutational spectrum in German patients with phenylalanine hydroxylase deficiency.
Aulehla-Scholz C et al.
Human Mutation, 2003
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
Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.
Kayaalp E et al.
American Journal of Human Genetics, 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
Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations.
Guldberg P et al.
Human Mutation, 1996
Science, medicine and phenylketonuria.
Scriver CR
Acta Paediatrica (oslo, Norway : 1992). Supplement, 1994
Association between haplotypes, hind III-VNTR alleles and mutations at the PAH locus in Sicily.
Romano V et al.
Acta Paediatrica (oslo, Norway : 1992). Supplement, 1994
Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.
Guldberg P et al.
Human Molecular Genetics, 1993
Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis.
van der Sijs-Bos CJ et al.
Human Heredity, 0