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45. Are mutations in LIMP-2 associated with myoclonic epilepsy in patients with Gaucher disease?

✍ Scribed by Sidransky Ellen; Nidhi Gupta; Arash Velayati; Jae Choi; Barbara Stubblefield; Ellen Sidransky; NAhid Tayebi


Book ID
116988782
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
41 KB
Volume
99
Category
Article
ISSN
1096-7192

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Glucocerebrosidase gene mutations in pat
✍ Deborah L. Stone; Nahid Tayebi; Eduard Orvisky; Barbara Stubblefield; Victor Mad πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 216 KB πŸ‘ 1 views

## Communicated by Mark Paalman Gaucher disease, the most common lysosomal storage disorder, results from the inherited deficiency of the enzyme glucocerebrosidase. Three clinical types are recognized: type 1, nonneuronopathic; type 2, acute neuronopathic; and type 3, subacute neuronopathic. Type 2