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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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Podrobná bibliografie
Vydáno v:J Vis Exp
Hlavní autoři: Lukas, Jan, Knospe, Anne-Marie, Seemann, Susanne, Citro, Valentina, Cubellis, Maria V., Rolfs, Arndt
Médium: Artigo
Jazyk:Inglês
Vydáno: MyJove Corporation 2017
Témata:
On-line přístup: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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