✦ LIBER ✦

Prenatal diagnosis of globoid cell leukodystrophy (Krabbe's disease)

✍ Scribed by K. Harzer

Publisher: Springer
Year: 1977
Tongue: English
Weight: 177 KB
Volume: 35
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00393969

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✦ Synopsis

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 activity was found. This finding, which had been demonstrated in a previous case, is discussed.

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