Fluorimetric assay with a novel substrate for quantification of galactocerebrosidase activity in dried blood spot specimens

BACKGROUND: Decreased galactocerebrosidase (GALC) enzyme activity is causative for Krabbe disease, a lysosomal storage disorder with devastating neurodegenerative consequences. Quantitative fluorimetric assays for GALC activity in isolated blood and skin cells have been described; however, no such a...

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Vydáno v:Pract Lab Med
Hlavní autoři: Ullal, Anirudh J., Pham, Hong, Singh, Rajendra, Ross, Peter, Graham, Carrie A., Norton, Scott M., Nuffer, Miriam H., Burns, Debbie S., Eckhardt, Allen E., Escolar, Maria, Bali, Deeksha, Pamula, Vamsee K.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2019
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6838535/
https://ncbi.nlm.nih.gov/pubmed/31720353
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.plabm.2019.e00141
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