title: Nature of the molecular defect in phenylketonuria and hyperphenylalaninaemia.
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics; D000818:Animals; D002247:Carbon Isotopes; D000939:Epitopes; D005796:Genes; D005809:Genes, Regulator; D006801:Humans; D005779:Immunodiffusion; D007700:Kinetics; D008099:Liver / Q000201:enzymology; D008244:Lysophosphatidylcholines / Q000494:pharmacology; D009154:Mutation; D010649:Phenylalanine / Q000097:blood / Q000378:metabolism*; D010651:Phenylalanine Hydroxylase / Q000032:analysis / Q000096:biosynthesis* / Q000378:metabolism; D010661:Phenylketonurias / Q000201:enzymology* / Q000235:genetics; D051381:Rats; D012756:Sheep / Q000276:immunology; D014443:Tyrosine / Q000096:biosynthesis
chemical_list: D002247:Carbon Isotopes; D000939:Epitopes; D008244:Lysophosphatidylcholines; D014443:Tyrosine; D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase