Associated Papers
Sapropterin Dihydrochloride Responsiveness in Phenylketonuria: A Case Series Exploring Gaps in Comprehensive Patient Monitoring.
Lo Bianco M et al.
Nutrients, 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
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
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
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Zurflüh MR et al.
Human Mutation, 2008
Rapid mutation screening of phenylketonuria by polymerase chain reaction-linked restriction enzyme assay and direct sequence of the phenylalanine hydroxylase gene: clinical application in northern Japan and northern China.
Sueoka H et al.
Genetic Testing, 2000
Molecular characterization of phenylketonuria in Japanese patients.
Okano Y et al.
Human Genetics, 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
Science, medicine and phenylketonuria.
Scriver CR
Acta Paediatrica (oslo, Norway : 1992). Supplement, 1994
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