Glucocerebrosidase gene mutations in pat
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Deborah L. Stone; Nahid Tayebi; Eduard Orvisky; Barbara Stubblefield; Victor Mad
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Article
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2000
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John Wiley and Sons
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English
β 216 KB
π 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