𝔖 Bobbio Scriptorium
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A Familial Canine Globoid Cell Leukodystrophy (“Krabbe Type”)

✍ Scribed by R. S. Hirth; S. W. Nielsen


Book ID
114871643
Publisher
John Wiley and Sons
Year
1967
Tongue
English
Weight
408 KB
Volume
8
Category
Article
ISSN
0022-4510

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Prenatal diagnosis of globoid cell leuko
✍ 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