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Physical and kinetic properties of β-glucosidase in Gaucher disease

✍ Scribed by A. Karazeh; M. Carroll

Publisher
Springer
Year
1983
Tongue
English
Weight
535 KB
Volume
6
Category
Article
ISSN
0141-8955

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Intracellular transport of acid ?-glucos
Intracellular transport of acid ?-glucosidase and lysosome-associated membrane proteins is affected in Gaucher's disease (G202R mutation)
✍ Zimmer, Klaus-Peter; le Coutre, Philipp; Aerts, Hans M. F. G.; Harzer, Klaus; Fu 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 469 KB 👁 1 views

Gaucher's disease (GD) is caused by an inherited deficiency of acid -glucosidase with storage of glucosylceramides in the lysosomes of macrophages. This study identifies a G202R mutation in the acid -glucosidase gene in an infant with severe neuronopathic (type 2) GD and only slightly reduced acid -