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Gaucher disease: expression and characterization of mild and severe acid β-glucosidase mutations in Portuguese type 1 patients

✍ Scribed by Amaral, Olga; Marcão, Ana; Sá Miranda, M C; Desnick, Robert J; Grace, Marie E

Book ID
110024919
Publisher
Nature Publishing Group
Year
2000
Tongue
English
Weight
160 KB
Volume
8
Category
Article
ISSN
1018-4813

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The finding of extensive lytic lesions in the mandible of a 19-year-old Ashkenazi Jewish woman led to the diagnosis of Type 1 Gaucher disease. She had extensive skeletal involvement, marked hepatosplenomegaly, and deficient acid ␤-glucosidase activity. Mutation analysis identified heteroallelism for