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Gaucher disease mutations in non-Jewish patients

✍ 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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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).

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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

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