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Deficient activity of glucocerebrosidase in urine from patients with type 1 Gaucher disease

✍ Scribed by Johannes M.F.G. Aerts; Wilma E. Donker-Koopman; Maarten Koot; John A. Barranger; Joseph M. Tager; AndréW. Schram


Book ID
115825460
Publisher
Elsevier Science
Year
1986
Tongue
English
Weight
637 KB
Volume
158
Category
Article
ISSN
0009-8981

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Glucocerebrosidase gene mutations in pat
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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