Biopterin-responsive hyperphenylalaninemia.
Kaufman
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Laboratory of Neurochemistry, National Institute of Mental Health, Bethesda, Maryland 20892.
D001708:Biopterins / Q000031:analogs & derivatives / Q000737:chemistry / Q000627:therapeutic use*; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000188:drug therapy* / Q000378:metabolism; D015394:Molecular Structure; D010088:Oxidoreductases / Q000378:metabolism; D010649:Phenylalanine / Q000097:blood*; D010651:Phenylalanine Hydroxylase / Q000378:metabolism; D010661:Phenylketonurias / Q000201:enzymology
D001708:Biopterins; D010649:Phenylalanine; D010088:Oxidoreductases; C022513:quinonoid dihydropterin reductase; D010651:Phenylalanine Hydroxylase; C003402:sapropterin