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The Glucocerebrosidase D409H Mutation in Gaucher Disease

✍ Scribed by Metsada Pasmanik-Chor; Sharon Laadan; Orna Elroy-Stein; Ari Zimran; Ayala Abrahamov; Shimon Gatt; Mia Horowitz

Book ID
112238160
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
775 KB
Volume
59
Category
Article
ISSN
1077-3150

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## 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