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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Pract Lab Med
Autors principals: 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
Idioma:Inglês
Publicat: Elsevier 2019
Matèries:
Article
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars