Gaucher disease is the most prevalent lysosomal storage disorder. It is autosomalrecessive, resulting in lysosomal glucocerebrosidase deficiency. Three clinical forms of Gaucher disease have been described: type 1 (nonneuronopathic), type 2 (acute neuronopathic), and type 3 (subacute neuronopathic).
Gaucher disease mutations in non-Jewish patients
β Scribed by Ernest Beutler; Terri Gelbart
- Book ID
- 114713218
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 430 KB
- Volume
- 85
- Category
- Article
- ISSN
- 0007-1048
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## 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
Communicated by Peter H. Byers Gaucher disease is particularly prevalent among Ashkenazi Jews; thus most studies have been reported on this ethnic group. We present the first data on Spanish patients with Gaucher disease and provide one of the first reports on a fairly well defined, large, non-Jewis