Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism

Deficient acid β-glucocerebrosidase activity due to biallelic mutations in GBA1 results in Gaucher disease (GD). Patients with this lysosomal storage disorder exhibit a wide range of associated manifestations, spanning from virtually asymptomatic adults to infants with severe neurodegeneration. Whil...

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Detalles Bibliográficos
Autores principales: Furderer, Makaila L., Hertz, Ellen, Lopez, Grisel J., Sidransky, Ellen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9147326/
https://www.ncbi.nlm.nih.gov/pubmed/35628652
http://dx.doi.org/10.3390/ijms23105842

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9147326/
https://www.ncbi.nlm.nih.gov/pubmed/35628652
http://dx.doi.org/10.3390/ijms23105842

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