The GBA gene encodes for the lysosomal enzyme glucocerebrosidase (GCase), which
maintains glycosphingolipid homeostasis. Approximately 5–15% of PD patients have …

Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is
caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an …

The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders that are
caused for the most part by enzyme deficiencies within the lysosome resulting in …

Glucocerebrosidase 1 (GBA) mutations responsible for Gaucher disease (GD) are the most
common genetic risk factor for Parkinson's disease (PD). Although the genetic link between …

Objective Gaucher disease (GD) is a lysosomal storage disease characterized by a
deficiency of glucocerebrosidase. Although enzyme‐replacement and substrate‐reduction …

Gaucher disease (GD) is a rare, genetic lysosomal disorder leading to lipid accumulation
and dysfunction in multiple organs. Involvement of the skeleton is one of the most prevalent …

PURPOSE: Gaucher disease is the first lysosomal storage disorder to be treated with
macrophage-targeted enzyme replacement therapy. Previous studies in relatively small …

Objectives: The objectives of this research were:(1) to heighten awareness of Gaucher
disease (GD), a rare lysosomal storage disorder with highly heterogeneous patterns of …

Gaucher disease, the most common lysosomal storage disorder, is a heterogeneous
multisystem condition. Patients with non-neuronopathic (type 1) Gaucher disease may suffer …

Background: Mutations in GBA and LRRK2 genes have been implicated in Parkinson
disease (PD), particularly in Ashkenazi Jews. Methods: An Israeli Ashkenazi cohort of 420 …