Prenatal diagnosis of propionic and methylmalonic acidaemia by stable isotope dilution analysis of amniotic fluid.
Holm
J
J
Department of Pediatrics, University of California San Diego, La Jolla 92093.
Ponders
L
L
Sweetman
L
L
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D000649:Amniocentesis; D002951:Citrates / Q000032:analysis*; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry / Q000379:methods; D006801:Humans; D008314:Malonates / Q000032:analysis*; D008764:Methylmalonic Acid / Q000032:analysis*; D011247:Pregnancy; D011422:Propionates / Q000032:analysis*; D011865:Radioisotope Dilution Technique
D002951:Citrates; D008314:Malonates; D011422:Propionates; D008764:Methylmalonic Acid