title: Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading.
authors.affiliation: Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zürich, Switzerland. blau@kispi.unizh.ch
authors.forename: N
authors.initials: N
authors.lastname: Blau
authors.forename: B
authors.initials: B
authors.lastname: Thöny
authors.forename: A
authors.initials: A
authors.lastname: Renneberg
authors.forename: J M
authors.initials: JM
authors.lastname: Penzien
authors.forename: K
authors.initials: K
authors.lastname: Hyland
authors.forename: G F
authors.initials: GF
authors.lastname: Hoffmann
mesh_terms: D000284:Administration, Oral; D001708:Biopterins / Q000031:analogs & derivatives / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D006801:Humans; D008297:Male; D010649:Phenylalanine / Q000008:administration & dosage / Q000378:metabolism*; D010661:Phenylketonurias; D014443:Tyrosine / Q000378:metabolism
chemical_list: D001708:Biopterins; D014443:Tyrosine; D010649:Phenylalanine; C003402:sapropterin