Quantitative analysis of amniotic fluid pyrimidines for the prenatal diagnosis of hereditary orotic aciduria.
Ohba
S
S
Department of Pediatrics, Nagoya City University Medical School, Japan.
Kidouchi
K
K
Toyama
J
J
Oda
T
T
Tsuboi
T
T
Ichiki
T
T
Sobajima
H
H
Sugiyama
N
N
Morishita
H
H
Købayashi
M
M
D000653:Amniotic Fluid / Q000737:chemistry*; D002851:Chromatography, High Pressure Liquid; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D009962:Orotate Phosphoribosyltransferase / Q000172:deficiency; D009963:Orotic Acid / Q000652:urine*; D009964:Orotidine-5'-Phosphate Decarboxylase / Q000172:deficiency; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011743:Pyrimidines / Q000032:analysis*
D011743:Pyrimidines; D009963:Orotic Acid; D009962:Orotate Phosphoribosyltransferase; D009964:Orotidine-5'-Phosphate Decarboxylase