Neurochemical Abnormalities in Patients with Type 1 Gaucher Disease on Standard of Care Therapy

BACKGROUND: Type 1 Gaucher disease (GD1), a glycosphingolipid storage disorder caused by deficient activity of lysosomal glucocerebrosidase, is classically considered non-neuronopathic. However, current evidence challenges this view. Multiple studies show that mutations in GBA1 gene and decreased gl...

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Detalhes bibliográficos
Publicado no:J Inherit Metab Dis
Main Authors: Kartha, Reena V., Joers, James, Terluk, Marcia R., Travis, Abigail, Rudser, Kyle, Tuite, Paul J., Weinreb, Neal J., Jarnes, Jeanine R., Cloyd, James C., Öz, Gülin
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7156305/
https://ncbi.nlm.nih.gov/pubmed/31613991
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12182
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