Combined phenylalanine-tetrahydrobiopterin loading test in GTP cyclohydrolase 1 deficiency.
Ponzone
A
A
Ferraris
S
S
Spada
M
M
Blau
N
N
Piovan
S
S
Burlina
A B
AB
D001708:Biopterins / Q000031:analogs & derivatives*; D003937:Diagnosis, Differential; D006136:GTP Cyclohydrolase / Q000172:deficiency*; D006801:Humans; D007223:Infant; D010649:Phenylalanine; D010661:Phenylketonurias / Q000175:diagnosis*
D001708:Biopterins; D010649:Phenylalanine; D006136:GTP Cyclohydrolase; C003402:sapropterin