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Globoid Cell Leucodystrophy (Krabbe's Disease): Deficiency of Galactocerebroside β -galactosidase

✍ Scribed by Kunihiko Suzuki and Yoshiyuki Suzuki

Book ID
123649661
Publisher
National Academy of Sciences
Year
1970
Tongue
English
Weight
978 KB
Volume
66
Category
Article
ISSN
0027-8424

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Prenatal diagnosis of globoid cell leukodystrophy (Krabbe's disease)
✍ K. Harzer 📂 Article 📅 1977 🏛 Springer 🌐 English ⚖ 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