Long-chain 3-hydroxyacyl-CoA dehydrogenase in chorionic villi, fetal liver and fibroblasts and prenatal diagnosis of 3-hydroxyacyl-CoA dehydrogenase deficiency.
Prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency was performed by analysis of the enzyme activity in a chorionic villus biopsy obtained in the 10th week of pregnancy. The diagnosis was confirmed in liver tissue and cultured fibroblasts from the aborted fetus.
von Döbeln
U
U
Department of Clinical Chemistry, Karolinska Institute, Huddinge University Hospital, Sweden.
Venizelos
N
N
Westgren
M
M
Hagenfeldt
L
L
D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000032:analysis / Q000172:deficiency*; D002478:Cells, Cultured; D002824:Chorionic Villi / Q000201:enzymology*; D003470:Culture Media; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007231:Infant, Newborn; D008099:Liver / Q000196:embryology / Q000201:enzymology*; D008297:Male; D011296:Prenatal Diagnosis
D003470:Culture Media; D015094:3-Hydroxyacyl CoA Dehydrogenases