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Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options

✍ Scribed by Volkmar Gieselmann


Book ID
114815441
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
110 KB
Volume
97
Category
Article
ISSN
0803-5253

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Molecular genetics of metachromatic leuk
✍ Volkmar Gieselmann; Joel Zlotogora; Ann Harris; David A. Wenger; C. Phillip Morr πŸ“‚ Article πŸ“… 1994 πŸ› John Wiley and Sons 🌐 English βš– 897 KB

Metachromatic leukodystrophy is an autosomal recessive inherited lysosomal storage disease. It can be caused by mutations in two different genes, the arylsulfatase A and the prosaposin gene. These genes encode two proteins that are needed for the proper degradation of cerebroside sulfate, a glycolip