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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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Bibliografske podrobnosti
Main Authors: Andreotti, Giuseppina, Citro, Valentina, De Crescenzo, Agostina, Orlando, Pierangelo, Cammisa, Marco, Correra, Antonella, Cubellis, Maria Vittoria
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2011
Teme:
Online dostop: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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