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In utero diagnosis of globoid cell leukodystrophy (Krabbe's disease)

✍ Scribed by Kunihiko Suzuki; Edward L. Schneider; Charles J. Epstein

Book ID
118852457
Publisher
Elsevier Science
Year
1971
Tongue
English
Weight
194 KB
Volume
45
Category
Article
ISSN
0006-291X

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Prenatal diagnosis of globoid cell leuko
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✍ K. Harzer πŸ“‚ Article πŸ“… 1977 πŸ› Springer 🌐 English βš– 177 KB

A case of globoid cell leukodystrophy (Krabbe's disease) was diagnosed prenatally by demonstrating a profound deficiency of cerebroside beta-galactosidase in cultured amniotic cells. The diagnosis was confirmed in the fetus aborted in the 19th week. In the cell-free amniotic fluid, normal enzyme act

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Prenatal enzymatic diagnosis of Krabbe disease (globoid-cell leukodystrophy) using chorionic villi
✍ K. Harzer; I. Schuster πŸ“‚ Article πŸ“… 1989 πŸ› Springer 🌐 English βš– 274 KB

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