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Plasma Glucosylsphingosine in GBA1 Mutation Carriers with and without Parkinson's Disease

BACKGROUND: Biallelic mutations in the GBA1 gene encoding glucocerebrosidase cause Gaucher's disease, whereas heterozygous carriers are at risk for Parkinson's disease (PD). Glucosylsphingosine is a clinically meaningful biomarker of Gaucher's disease but could not be assayed previous...

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Detalles Bibliográficos
Autores principales: Surface, Matthew, Balwani, Manisha, Waters, Cheryl, Haimovich, Alexander, Gan‐Or, Ziv, Marder, Karen S., Hsieh, Tammy, Song, Linxia, Padmanabhan, Shalini, Hsieh, Frank, Merchant, Kalpana M., Alcalay, Roy N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8840974/
https://www.ncbi.nlm.nih.gov/pubmed/34741486
http://dx.doi.org/10.1002/mds.28846