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

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 …

Abstract Background Lysosomal storage diseases (LSDs) are inborn errors of metabolism
resulting from 50 different inherited disorders. The increasing availability of treatments and …

Glycosphingolipids are cell-type-specific components of the outer leaflet of mammalian
plasma membranes. Gangliosides, sialic acid–containing glycosphingolipids, are especially …

Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal lethal
disorder to an asymptomatic type. The identification of three major clinical types (1, 2, and 3) …

Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder due to the
deficient activity of the acid beta-glucosidase (GCase) enzyme, resulting in the progressive …

GBA gene variants were the first genetic risk factor for Parkinson's disease. GBA encodes
the lysosomal enzyme glucocerebrosidase (GBA), which is involved in sphingolipid …

Background: Neuronopathic Gaucher disease (nGD) is a rare neurodegenerative disorder
caused by biallelic mutations in GBA and buildup of glycosphingolipids in lysosomes …

Gaucher disease (GD) is an autosomal recessive inherited lysosomal storage disease that
often presents in early childhood and is associated with damage to multiple organ systems …