Associated Papers
Genotype-phenotype correlations in phenylketonuria: PAH variants and BH4 responsiveness for treatment design.
Karaca M et al.
Human Genomics, 2026
Sapropterin Dihydrochloride Responsiveness in Phenylketonuria: A Case Series Exploring Gaps in Comprehensive Patient Monitoring.
Lo Bianco M et al.
Nutrients, 2025
Personalized Genotype-Based Approach for Treatment of Phenylketonuria.
Gundorova P et al.
Journal of Inherited Metabolic Disease, 2025
Clinical and Genetic Spectrum of Patients with Pediatric-Onset Epilepsy: Insights from a Single-Center Study.
Tozkir H et al.
Genes, 2025
Genotypic and phenotypic characteristics of Turkish patients with phenylalanine metabolism disorders.
Kuzucu FN et al.
Metabolic Brain Disease, 2025
Genotype-Phenotype Correlation in a Large Cohort of Eastern Sicilian Patients Affected by Phenylketonuria: Newborn Screening Program, Clinical Features, and Follow-Up.
Consentino MC et al.
Nutrients, 2025
Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene.
Tebieva IS et al.
International Journal of Molecular Sciences, 2024
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
Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy.
Çıkı K et al.
Molecular Genetics and Metabolism, 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
Mutational landscape of phenylketonuria in Iran.
Ajami N et al.
Journal of Cellular and Molecular Medicine, 2023
Blood phenylalanine fluctuation in phenylketonuric children treated by BH4 or low-phenylalanine diet from birth.
Theron M et al.
Scientific Reports, 2023
A Comprehensive Study of Disease-Causing Variants in PAH, QDPR, PTS, and PCD Genes in Iranian Patients with Hyperphenylalaninemia: A Systematic Review.
Ghanei M et al.
Human Heredity, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
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
Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study.
Rajabi F et al.
Molecular Genetics and Metabolism, 2019
Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations.
Scheller R et al.
Human Mutation, 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
Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.
Shirzadeh T et al.
Journal of Inherited Metabolic Disease, 2018
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
Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus.
Gundorova P et al.
Plos One, 2018
Convert your favorite protein modeling program into a mutation predictor: "MODICT".
Tanyalcin I et al.
Bmc Bioinformatics, 2016
Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.
Aldámiz-Echevarría L et al.
Journal of Human Genetics, 2016
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
Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness.
Polak E 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
Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.
Couce ML et al.
Gene, 2013
Risk factors for developing mineral bone disease in phenylketonuric patients.
Mirás A et al.
Molecular Genetics and Metabolism, 2013
Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.
Shi Z et al.
Proteins, 2012
Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?
Sarkissian CN et al.
Jimd Reports, 2012
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Zurflüh MR et al.
Human Mutation, 2008
Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria.
Hennermann JB et al.
Molecular Genetics and Metabolism, 2005
Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients.
Fiori L et al.
Molecular Genetics and Metabolism, 2005
High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002.
Bernegger C et al.
Molecular Genetics and Metabolism, 2002
PAH gene mutations in the Sicilian population: association with minihaplotypes and expression analysis.
Mirisola MG et al.
Molecular Genetics and Metabolism, 2001
Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience.
Zekanowski C et al.
Journal of Medical Screening, 2001
Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations.
Hennermann JB et al.
Human Mutation, 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
Molecular basis of mild hyperphenylalaninaemia in Poland.
Zekanowski C et al.
Journal of Medical Genetics, 1997
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
Identical SRY mutations with different phenotypic effects.
Mittwoch U
American Journal of Human Genetics, 1993