A new case of prenatal diagnosis of isovaleric acidaemia.
Dumoulin
R
R
Divry
P
P
Mandon
G
G
Mathieu
M
M
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000737:chemistry; D002250:Carbon Radioisotopes; D002849:Chromatography, Gas; D005260:Female; D006801:Humans; D050769:Isovaleryl-CoA Dehydrogenase; D007930:Leucine / Q000378:metabolism*; D013058:Mass Spectrometry; D010088:Oxidoreductases / Q000172:deficiency*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D011247:Pregnancy
D002250:Carbon Radioisotopes; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050769:Isovaleryl-CoA Dehydrogenase; D007930:Leucine