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...

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Bibliographic Details

Published in:	Human genetics Vol. 84; no. 1; p. 83
Main Authors:	Harzer, K, Schuster, I
Format:	Journal Article
Language:	English
Published:	Germany 01.12.1989
Subjects:	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 Access:	Get more information
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