Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots

Gaucher disease (GD) is a lysosomal storage disorder that responds well to enzyme replacement therapy (ERT). Certain laboratory parameters, including blood concentration of glucosylsphingosine (Lyso-Gb1), the lyso-derivate of the common glycolipid glucocerebroside, correlate with clinical improvemen...

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Udgivet i:Int J Mol Sci
Main Authors: Cozma, Claudia, Cullufi, Paskal, Kramp, Guido, Hovakimyan, Marina, Velmishi, Virtut, Gjikopulli, Agim, Tomori, Sonila, Fischer, Steffen, Oppermann, Sebastian, Grittner, Ulrike, Bauer, Peter, Beetz, Christian, Rolfs, Arndt
Format: Artigo
Sprog:Inglês
Udgivet: MDPI 2020
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7369829/
https://ncbi.nlm.nih.gov/pubmed/32605119
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21134577
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