title: Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations.
abstract: The effect of tetrahydrobiopterin (BH(4)) administration was studied in three infants with BH(4) responsive phenylalanine hydroxylase (PAH) deficiency by correlating different BH(4) doses with plasma phenylalanine levels under defined protein intake.
authors.affiliation: Department of Pediatrics, University of Hamburg, Martinistrasse 52, 20246 Hamburg, Germany.
authors.forename: Robert
authors.initials: R
authors.lastname: Steinfeld
authors.forename: Alfried
authors.initials: A
authors.lastname: Kohlschütter
authors.forename: Johannes
authors.initials: J
authors.lastname: Zschocke
authors.forename: Martin
authors.initials: M
authors.lastname: Lindner
authors.forename: Kurt
authors.initials: K
authors.lastname: Ullrich
authors.forename: Zoltan
authors.initials: Z
authors.lastname: Lukacs
mesh_terms: D000284:Administration, Oral; D001708:Biopterins / Q000008:administration & dosage* / Q000031:analogs & derivatives*; D004305:Dose-Response Relationship, Drug; D004334:Drug Administration Schedule; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010649:Phenylalanine / Q000097:blood* / Q000187:drug effects; D010661:Phenylketonurias / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics*; D012720:Severity of Illness Index; D016896:Treatment Outcome
chemical_list: D001708:Biopterins; D010649:Phenylalanine; C003402:sapropterin