Unsolved problems in diagnosis and therapy of hyperphenylalaninemia caused by defects in tetrahydrobiopterin metabolism.
D001708:Biopterins / Q000031:analogs & derivatives / Q000096:biosynthesis; D002648:Child; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D003937:Diagnosis, Differential; D004032:Diet; D006801:Humans; D007223:Infant; D002955:Leucovorin / Q000627:therapeutic use; D010651:Phenylalanine Hydroxylase / Q000172:deficiency; D010661:Phenylketonurias / Q000175:diagnosis* / Q000378:metabolism / Q000628:therapy; D011622:Pterins / Q000652:urine
D011622:Pterins; D001708:Biopterins; D010651:Phenylalanine Hydroxylase; C003402:sapropterin; D002955:Leucovorin