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Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase
Gaucher disease (GD) is characterized by accumulation of glucosylceramide in lysosomes due to mutations in the GBA1 gene encoding the lysosomal hydrolase β-glucocerebrosidase (GCase). The disease has a broad spectrum of phenotypes, which were divided into three different Types; Type 1 GD is not asso...
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| Autors principals: | , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Academic Press
2013
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3547170/ https://ncbi.nlm.nih.gov/pubmed/23158495 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bcmd.2012.10.007 |
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