title: Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency.
authors.affiliation: Institute of Metabolic Disease, Dallas, Texas 75226, USA. k.hyland@baylordallas.edu
authors.forename: K
authors.initials: K
authors.lastname: Hyland
authors.forename: T G
authors.initials: TG
authors.lastname: Nygaard
authors.forename: J M
authors.initials: JM
authors.lastname: Trugman
authors.forename: K J
authors.initials: KJ
authors.lastname: Swoboda
authors.forename: L A
authors.initials: LA
authors.lastname: Arnold
authors.forename: S P
authors.initials: SP
authors.lastname: Sparagana
mesh_terms: D000284:Administration, Oral; D004298:Dopamine / Q000378:metabolism*; D004421:Dystonia / Q000378:metabolism*; D006136:GTP Cyclohydrolase / Q000172:deficiency*; D030342:Genetic Diseases, Inborn; D006579:Heterozygote; D006801:Humans; D010649:Phenylalanine / Q000008:administration & dosage / Q000378:metabolism*; D014443:Tyrosine / Q000097:blood
chemical_list: D014443:Tyrosine; D010649:Phenylalanine; D006136:GTP Cyclohydrolase; D004298:Dopamine