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Validation and assessment of preanalytical factors of a fluorometric in vitro assay for glucocerebrosidase activity in human cerebrospinal fluid

Lysosomal dysfunction is an emerging feature in the pathology of Parkinson’s disease and Dementia with Lewy bodies. Mutations in the GBA gene, encoding the enzyme Glucocerebrosidase (GCase), have been identified as a genetic risk factor for these synucleinopathies. As a result, there has been a grow...

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Detalles Bibliográficos
Autores principales: Oftedal, Linn, Maple-Grødem, Jodi, Førland, Marthe Gurine Gunnarsdatter, Alves, Guido, Lange, Johannes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7744549/
https://www.ncbi.nlm.nih.gov/pubmed/33328543
http://dx.doi.org/10.1038/s41598-020-79104-5