[Enzyme deficiencies detected on cultured fibroblasts and amniotic cells. Application to prenatal diagnosis].
The detection of enzumatic deficiencies on cultured cells is reviewed from the literature and the authors personal experience. The application to the antenatal diagnosis of enzymatic genetic diseases is discussed, with special reference to lysosomal enzymes, of which the deficiency is most frequent. The authors insist on the importance of such detections and the problems which they may have to meet.
D000653:Amniotic Fluid / Q000201:enzymology*; D001192:Arylsulfatases / Q000172:deficiency; D002478:Cells, Cultured; D003937:Diagnosis, Differential; D005260:Female; D005347:Fibroblasts / Q000201:enzymology*; D005959:Glucosidases / Q000172:deficiency; D006009:Glycogen Storage Disease Type II / Q000201:enzymology; D006579:Heterozygote; D006596:Hexosaminidases / Q000172:deficiency; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000201:enzymology; D008247:Lysosomes / Q000201:enzymology; D008661:Metabolism, Inborn Errors / Q000201:enzymology*; D009083:Mucopolysaccharidoses / Q000201:enzymology; D011247:Pregnancy; D011296:Prenatal Diagnosis
D001192:Arylsulfatases; D005959:Glucosidases; D006596:Hexosaminidases
Déficits enzymatiques détectés sur fibroblastes et cellules amniotiques en culture. Application au diagnostic prénatal