Potential for the prenatal diagnosis of hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
Chadefaux
B
B
Bonnefont
J P
JP
Rabier
D
D
Shih
V E
VE
Saudubray
J M
JM
Kamoun
P
P
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D000641:Ammonia / Q000097:blood*; D015193:Chorionic Villi Sampling; D002956:Citrulline / Q000031:analogs & derivatives* / Q000652:urine; D005260:Female; D006801:Humans; D009952:Ornithine / Q000097:blood*; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis
C001352:homocitrulline; D002956:Citrulline; D000641:Ammonia; D009952:Ornithine