First trimester prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria.
Chalmers
R A
RA
Perinatal and Child Health, MRC Clinical Research Centre, Harrow, UK.
Mistry
J
J
Penketh
R
R
McFadyen
I R
IR
D015193:Chorionic Villi Sampling; D005260:Female; D005977:Glutarates / Q000652:urine*; D006801:Humans; D015093:Meglutol / Q000652:urine*; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D007652:Oxo-Acid-Lyases / Q000172:deficiency* / Q000378:metabolism; D011247:Pregnancy; D011261:Pregnancy Trimester, First
D005977:Glutarates; D015093:Meglutol; D007652:Oxo-Acid-Lyases; C021410:3-hydroxy-3-methylglutaryl-coenzyme A lyase