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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

The use of personalized medicine to treat rare monogenic diseases like lysosomal storage disorders (LSDs) is challenged by complex clinical trial designs, high costs, and low patient numbers. Hundreds of mutant alleles are implicated in most of the LSDs. The diseases are typically classified into 2...

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Detalhes bibliográficos
Publicado no:J Vis Exp
Main Authors: Lukas, Jan, Knospe, Anne-Marie, Seemann, Susanne, Citro, Valentina, Cubellis, Maria V., Rolfs, Arndt
Formato: Artigo
Idioma:Inglês
Publicado em: MyJove Corporation 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5755676/
https://ncbi.nlm.nih.gov/pubmed/29286471
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3791/56550
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