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Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests
BACKGROUND: Fabry disease is a rare disorder caused by a large variety of mutations in the gene encoding lysosomal alpha-galactosidase. Many of these mutations are unique to individual families. Fabry disease can be treated with enzyme replacement therapy, but a promising novel strategy relies on sm...
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| Autori principali: | , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2011
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3216245/ https://ncbi.nlm.nih.gov/pubmed/22004918 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-6-66 |
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