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Hepatic galactosylceramide in globoid cell leukodystrophy (Krabbe's disease)

✍ Scribed by Glyn Dawson

Book ID
112770723
Publisher
Springer-Verlag
Year
1973
Tongue
English
Weight
229 KB
Volume
8
Category
Article
ISSN
0024-4201

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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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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