Articles with "features gaucher" as a keyword



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Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism

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Published in 2022 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms23105842

Abstract: 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… read more here.

Keywords: disease; neuropathological features; features gaucher; disease gaucher ... See more keywords