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