Prenatal diagnosis of 6-pyruvoyl tetrahydropterin synthase deficiency in seven subjects.
Shintaku
H
H
Department of Pediatrics, Osaka City University Medical School, Japan.
Hsiao
K J
KJ
Liu
T T
TT
Imamura
T
T
Hase
Y
Y
Chen
R G
RG
Isshiki
G
G
Oura
T
T
D000429:Alcohol Oxidoreductases / Q000172:deficiency*; D000653:Amniotic Fluid / Q000201:enzymology / Q000378:metabolism; D001208:Asia; D001708:Biopterins / Q000031:analogs & derivatives / Q000378:metabolism; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D019798:Neopterin; D019761:Phosphorus-Oxygen Lyases; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013624:Taiwan
D001708:Biopterins; D019798:Neopterin; D000429:Alcohol Oxidoreductases; D019761:Phosphorus-Oxygen Lyases; C043497:6-pyruvoyltetrahydropterin synthase