𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Prenatal diagnosis of Krabbe disease

✍ Scribed by Marie T. Vanier; Lars Svennerholm; Jan-Eric Månsson; Gunilla Hakansson; André Bou; Jan Lindsten

Book ID
119839224
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
609 KB
Volume
20
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Prenatal diagnosis of globoid cell leuko
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

Prenatal enzymatic diagnosis of Krabbe d
Prenatal enzymatic diagnosis of Krabbe disease (globoid-cell leukodystrophy) using chorionic villi
✍ K. Harzer; I. Schuster 📂 Article 📅 1989 🏛 Springer 🌐 English ⚖ 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