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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Veröffentlicht in:Pract Lab Med
Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2019
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Article
Online Zugang: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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