Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency: possible regulation of gene expression in a patient with the homozygous L48S mutation.
Blau
Nenad
N
Trefz
Friedrich K
FK
D019943:Amino Acid Substitution; D000975:Antioxidants / Q000378:metabolism / Q000494:pharmacology*; D001708:Biopterins / Q000031:analogs & derivatives* / Q000378:metabolism / Q000494:pharmacology*; D015971:Gene Expression Regulation, Enzymologic / Q000187:drug effects; D006720:Homozygote; D006801:Humans; D010651:Phenylalanine Hydroxylase / Q000172:deficiency* / Q000235:genetics
D000975:Antioxidants; D001708:Biopterins; D010651:Phenylalanine Hydroxylase; C003402:sapropterin