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.
Department of Clinical Chemistry, Karolinska Institute, Huddinge University Hospital, Sweden.
U
U
von Döbeln
N
N
Venizelos
M
M
Westgren
L
L
Hagenfeldt
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