Glucocerebrosidase Enzyme Activity in GBA Mutation Parkinson Disease

Mutations in the glucocerebrosidase (GBA1) gene, the most common genetic contributor to Parkinson’s disease (PD), are associated with an increased risk of PD in heterozygous and homozygous carriers. While glucocerebrosidase enzyme (GCase) activity is consistently low in Gaucher disease, there is a r...

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Pubblicato in:J Clin Neurosci
Autori principali: Ortega, Roberto A., Torres, Paola A., Swan, Matthew, Nichols, William, Boschung, Sarah, Raymond, Deborah, Barrett, Matthew J., Johannes, Brooke A., Severt, Lawrence, Shanker, Vicki, Hunt, Ann L., Bressman, Susan, Pastores, Gregory M., Saunders-Pullman, Rachel
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2016
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4856562/
https://ncbi.nlm.nih.gov/pubmed/26857292
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jocn.2015.12.004
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