Associated Papers
Genomic profiling, implications for genotype-based treatment of 131 patients with phenylketonuria and characterization of novel p.Pro416Leu PAH variant.
Klaassen K et al.
Scientific Reports, 2025
Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.
Tao J et al.
Pediatric Research, 2015
Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness.
Trunzo R et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
Plasma cholesterol in adults with phenylketonuria.
Williams RA et al.
Pathology, 2015
Assessment of tetrahydrobiopterin (BH(4))-responsiveness and spontaneous phenylalanine reduction in a phenylalanine hydroxylase deficiency population.
Tansek MZ et al.
Molecular Genetics and Metabolism, 2012
Phenylketonuria: an inborn error of phenylalanine metabolism.
Williams RA et al.
The Clinical Biochemist. Reviews, 2008
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