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 …

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 …

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 …

Antigen-driven selection has been implicated in the pathogenesis of monoclonal
gammopathies. Patients with Gaucher's disease have an increased risk of monoclonal …

Gaucher disease (GD) involves the accumulation of glucosylceramide (GL1) and its
deacylated lysolipid, glucosylsphingosine (lyso‐GL1) which is implicated in mediating …

Parkinson's disease (PD) is defined as a complex disorder with multifactorial pathogenesis,
yet a more accurate definition could be that PD is not a single entity, but rather a mixture of …

The challenges in the diagnosis, prognosis, and monitoring of Gaucher disease (GD), an
autosomal recessive inborn error of glycosphingolipid metabolism, can negatively impact …

Over the past decades, tremendous progress has been made in the field of Gaucher
disease, the inherited deficiency of the lysosomal enzyme glucocerebrosidase. Many of the …

Background Gaucher disease (GD) is the most common lysosomal storage disorder (LSD).
Based on a deficient β-glucocerebrosidase it leads to an accumulation of glucosylceramide …

Introduction: Gaucher disease, the autosomal recessive deficiency of the lysosomal enzyme
glucocerebrosidase, is associated with wide phenotypic diversity including non …