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...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Linn Oftedal, Jodi Maple-Grødem, Marthe Gurine Gunnarsdatter Førland, Guido Alves, Johannes Lange
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2020
Materias:
R
Q
Acceso en línea:https://doaj.org/article/798cd8a5c2bd49debe0bb3fe4928aa98
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!