Phenylalanine hydroxylase deficiency in the Slovak population: Genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness
Keywords: BH4; tetrahydrobiopterin (6RL-erythro-5,6,7,8-tetrahydrobiopterin); Bp; base pairs; BIOPKUdb; International Database of Patients and Genotypes Causing HPA/PKU including BH4-responsive Phenotype; Conc.; concentration; cPKU; classic phenylketonuria; dNTP; d