Mutation analysis of Australasian Gaucher disease patients
β Scribed by Nelson, P. V. ;Carey, W. F. ;Morris, C. P. ;Lewis, B. D.
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 77 KB
- Volume
- 58
- Category
- Article
- ISSN
- 0148-7299
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π SIMILAR VOLUMES
Gaucher disease (GD) is caused by a deficiency of β€-glucocerebrosidase activity mainly due to mutations in the gene coding for the enzyme. More than 100 mutations have been identified to date and their frequencies have been established in several populations, including Ashkenazi Jews, among whom the
## 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
## To the Editor: Gaucher disease results from an inherited deficiency of the lysosomal enzyme glucocerebrosidase . Three clinical forms of Gaucher disease have been described: type 1, non-neuronopathic; type 2, acute neuronopathic; and type 3, subacute neuronopathic. Type I Gaucher disease is the