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

Abstract 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 be...

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Autors principals: Linn Oftedal, Jodi Maple-Grødem, Marthe Gurine Gunnarsdatter Førland, Guido Alves, Johannes Lange
Format: Artigo
Idioma:Inglês
Publicat: Nature Portfolio 2020-12-01
Col·lecció:Scientific Reports
Accés en línia:https://doi.org/10.1038/s41598-020-79104-5
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