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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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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Oftedal, Linn, Maple-Grødem, Jodi, Førland, Marthe Gurine Gunnarsdatter, Alves, Guido, Lange, Johannes
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7744549/
https://ncbi.nlm.nih.gov/pubmed/33328543
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-79104-5
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