title: Hyperphenylalaninaemia due to tetrahydrobiopterin deficiency: a report of 16 cases.
authors.affiliation: Department of Pediatrics, Hacettepe University, Faculty of Medicine, Hacettepe/Ankara, Turkey.
authors.forename: T
authors.initials: T
authors.lastname: Coskun
authors.forename: I
authors.initials: I
authors.lastname: Ozalp
authors.forename: A
authors.initials: A
authors.lastname: Tokatli
authors.forename: N
authors.initials: N
authors.lastname: Blau
authors.forename: A
authors.initials: A
authors.lastname: Niederwieser
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood* / Q000178:diet therapy / Q000235:genetics; D001708:Biopterins / Q000031:analogs & derivatives* / Q000172:deficiency; D002648:Child; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D004032:Diet; D004563:Electrochemistry; D005260:Female; D006801:Humans; D008297:Male; D010649:Phenylalanine / Q000097:blood*
chemical_list: D001708:Biopterins; D010649:Phenylalanine; C003402:sapropterin