Tetrahydrobiopterin-responsive hyperphenylalaninaemia due to homozygous mutations in the phenylalanine hydroxylase gene.
Blau
Nenad
N
Bernegger
Caroline
C
Trefz
Fritz K
FK
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*
D001708:Biopterins; D010651:Phenylalanine Hydroxylase; C003402:sapropterin