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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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Detalles Bibliográficos
Autores principales:	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.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6838535/ https://www.ncbi.nlm.nih.gov/pubmed/31720353 http://dx.doi.org/10.1016/j.plabm.2019.e00141

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