Hyperphenylalaninemia syndromes: current status of diagnosis and management.
Matsuo
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D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism / Q000628:therapy; D001708:Biopterins / Q000031:analogs & derivatives / Q000378:metabolism; D005260:Female; D006801:Humans; D006900:Hydroxylation; D007231:Infant, Newborn; D010649:Phenylalanine / Q000097:blood*; D010661:Phenylketonurias / Q000175:diagnosis; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome
D001708:Biopterins; D010649:Phenylalanine; C003402:sapropterin