title: Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patients.
abstract: In a group of 87 consecutive patients with hyperphenylalaninaemia born since 1990, only 3 patients showed a (temporary) decrease of serum phenylalanine levels after tetrahydrobiopterin (BH4) loading in usual doses (20 mg/kg body weight).
authors.affiliation: Department of Pediatrics, University Hospital of Münster, Germany. weglage@uni-muenster.de
authors.forename: J
authors.initials: J
authors.lastname: Weglage
authors.forename: M
authors.initials: M
authors.lastname: Grenzebach
authors.forename: A
authors.initials: A
authors.lastname: von Teeffelen-Heithoff
authors.forename: T
authors.initials: T
authors.lastname: Marquardt
authors.forename: R
authors.initials: R
authors.lastname: Feldmann
authors.forename: J
authors.initials: J
authors.lastname: Denecke
authors.forename: D
authors.initials: D
authors.lastname: Gödde
authors.forename: H G
authors.initials: HG
authors.lastname: Koch
mesh_terms: D001708:Biopterins / Q000031:analogs & derivatives* / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D010649:Phenylalanine / Q000097:blood; D010651:Phenylalanine Hydroxylase / Q000097:blood / Q000172:deficiency; D010661:Phenylketonurias / Q000188:drug therapy*; D012189:Retrospective Studies
chemical_list: D001708:Biopterins; D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase; C003402:sapropterin