title: Tetrahydrobiopterin-responsive hyperphenylalaninaemia due to homozygous mutations in the phenylalanine hydroxylase gene.
authors.forename: Nenad
authors.initials: N
authors.lastname: Blau
authors.forename: Caroline
authors.initials: C
authors.lastname: Bernegger
authors.forename: Fritz K
authors.initials: FK
authors.lastname: Trefz
mesh_terms: D001708:Biopterins / Q000031:analogs & derivatives* / Q000494:pharmacology*; D005786:Gene Expression Regulation / Q000187:drug effects; D006720:Homozygote; D006801:Humans; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000188:drug therapy* / Q000235:genetics*
chemical_list: D001708:Biopterins; D010651:Phenylalanine Hydroxylase; C003402:sapropterin