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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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Detaylı Bibliyografya
Yayımlandı:J Vis Exp
Asıl Yazarlar: Lukas, Jan, Knospe, Anne-Marie, Seemann, Susanne, Citro, Valentina, Cubellis, Maria V., Rolfs, Arndt
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: MyJove Corporation 2017
Konular:
Online Erişim: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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