Early prenatal diagnosis of propionic acidaemia with simultaneous sampling of chorionic villus and amniotic fluid.
Rolland
M O
MO
Centre d'Etude des Maladies Métaboliques, Hôpital Debrousse, Lyon, France.
Divry
P
P
Mandon
G
G
Guibaud
P
P
Mathieu
M
M
Sournies
G
G
Thoulon
J M
JM
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism; D000653:Amniotic Fluid / Q000737:chemistry* / Q000378:metabolism; D002262:Carboxy-Lyases / Q000172:deficiency / Q000378:metabolism; D002478:Cells, Cultured; D002824:Chorionic Villi / Q000201:enzymology*; D005260:Female; D006801:Humans; D043586:Methylmalonyl-CoA Decarboxylase; D010649:Phenylalanine / Q000378:metabolism; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011422:Propionates / Q000097:blood* / Q000378:metabolism
D011422:Propionates; D010649:Phenylalanine; D002262:Carboxy-Lyases; D043586:Methylmalonyl-CoA Decarboxylase; C029658:propionic acid