Hyperphenylalaninaemia presumably due to carbinolamine dehydratase deficiency: loading tests with pterin derivatives.
Blau
N
N
Department of Pediatrics, University of Zurich, Switzerland.
Kierat
L
L
Curtius
H C
HC
Blaskovics
M
M
Giudici
T
T
D001708:Biopterins / Q000031:analogs & derivatives / Q000652:urine; D005260:Female; D006801:Humans; D006836:Hydro-Lyases / Q000172:deficiency*; D007231:Infant, Newborn; D007700:Kinetics; D010649:Phenylalanine / Q000097:blood*; D011621:Pteridines; D011622:Pterins / Q000652:urine
D011621:Pteridines; D011622:Pterins; D001708:Biopterins; C056246:primapterin; D010649:Phenylalanine; C017226:7,8-dihydrobiopterin; C016727:sepiapterin; D006836:Hydro-Lyases; C076392:pterin-4a-carbinolamine dehydratase; C003402:sapropterin