Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency.
Hyland
K
K
Institute of Metabolic Disease, Dallas, Texas 75226, USA. k.hyland@baylordallas.edu
Nygaard
T G
TG
Trugman
J M
JM
Swoboda
K J
KJ
Arnold
L A
LA
Sparagana
S P
SP
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
D014443:Tyrosine; D010649:Phenylalanine; D006136:GTP Cyclohydrolase; D004298:Dopamine