title: Tetrahydrobiopterin deficiency in Portugal: results of the screening for hyperphenylalaninemia.
authors.affiliation: Centro de Metabolismos e Genética (INIC)-Faculdade de Farmácia, Lisboa, Portugal.
authors.forename: I T
authors.initials: IT
authors.lastname: de Almeida
authors.forename: P P
authors.initials: PP
authors.lastname: Leandro
authors.forename: R
authors.initials: R
authors.lastname: Portela
authors.forename: A
authors.initials: A
authors.lastname: Cabral
authors.forename: F
authors.initials: F
authors.lastname: Eusébio
authors.forename: T
authors.initials: T
authors.lastname: Tasso
authors.forename: A
authors.initials: A
authors.lastname: Matasovic
authors.forename: N
authors.initials: N
authors.lastname: Blau
mesh_terms: D000293:Adolescent; D001708:Biopterins / Q000031:analogs & derivatives* / Q000172:deficiency; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D006719:Homovanillic Acid / Q000652:urine; D006801:Humans; D006897:Hydroxyindoleacetic Acid / Q000652:urine; D007231:Infant, Newborn; D008297:Male; D008403:Mass Screening; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000453:epidemiology / Q000378:metabolism; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000175:diagnosis* / Q000517:prevention & control; D011174:Portugal / Q000453:epidemiology; D011622:Pterins / Q000134:cerebrospinal fluid / Q000652:urine
chemical_list: D011622:Pterins; D001708:Biopterins; D010649:Phenylalanine; D006897:Hydroxyindoleacetic Acid; C003402:sapropterin; D006719:Homovanillic Acid