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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Vydáno v:	Human genetics Ročník 84; číslo 1; s. 83
Hlavní autoři:	Harzer, K, Schuster, I
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Germany 01.12.1989
Témata:	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
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