## Communicated by Andreas Gal Gaucher disease (GD) is the most frequent lysosomal glycolipid storage disorder due to an autosomal recessive deficiency of acid Ξ²-glucosidase characterized by the accumulation of glucocerebroside. In this work we carried out the molecular analysis of the glucocerebro
Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles
β Scribed by Stefania Zampieri; Mirella Filocamo; Emanuele Buratti; Marina Stroppiano; Kristian Vlahovicek; Natalia Rosso; Eleonora Bignulin; Stefano Regis; Franco Carnevale; Bruno Bembi; Andrea Dardis
- Publisher
- Springer
- Year
- 2008
- Tongue
- English
- Weight
- 309 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1364-6745
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