Prenatal enzymatic diagnosis of Krabbe disease (globoid-cell leukodystrophy) using chorionic villi. Pitfalls in the use of uncultured villi

Sixteen pregnancies in families with children enzymatically diagnosed as having Krabbe disease (KD) were monitored for prenatal KD using the assay of galactosyl ceramide beta-galactosidase (GCG) in uncultured chorionic villi (CV), cultured CV, or cultured amniotic fluid cells (AFC). Prenatal KD diag...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Human genetics Jg. 84; H. 1; S. 83
Hauptverfasser:	Harzer, K, Schuster, I
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	Germany 01.12.1989
Schlagworte:	Cells, Cultured Chorionic Villi - enzymology Clinical Enzyme Tests Embryo, Mammalian Female Galactosidases - analysis Galactosylceramidase - analysis Galactosylceramidase - metabolism Humans Leukodystrophy, Globoid Cell - diagnosis Leukodystrophy, Globoid Cell - enzymology Pregnancy Prenatal Diagnosis
ISSN:	0340-6717
Online-Zugang:	Weitere Angaben
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!