Prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria via enzyme activity measurements in chorionic villi, chorionic villous fibroblasts or amniocytes using a simple spectrophotometric method.
Wanders
R J
RJ
Department of Pediatrics, University Hospital Amsterdam, The Netherlands.
Schutgens
R B
RB
Zoeters
B H
BH
D000650:Amnion / Q000201:enzymology*; D002824:Chorionic Villi / Q000201:enzymology*; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005977:Glutarates / Q000652:urine*; D006801:Humans; D015093:Meglutol / Q000652:urine*; D007652:Oxo-Acid-Lyases / Q000032:analysis / Q000172:deficiency*; D011247:Pregnancy; D011296:Prenatal Diagnosis
D005977:Glutarates; D015093:Meglutol; D007652:Oxo-Acid-Lyases; C021410:3-hydroxy-3-methylglutaryl-coenzyme A lyase