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 …

Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

Mutations in GBA1, the gene encoding the lysosomal enzyme glucocerebrosidase, are
among the most common known genetic risk factors for the development of Parkinson …

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 …

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) …

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 …

In nonneuronopathic type 1 Gaucher disease (GD1), mutations in the glucocerebrosidase
gene (GBA1) gene result in glucocerebrosidase deficiency and the accumulation of its …

Type 1 (non neuronopathic) Gaucher disease was the first lysosomal storage disorder for
which an effective enzyme replacement therapy was developed and it has become a …

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

In Gaucher disease, defective lysosomal glucocerebrosidase due to mutations in the GBA1
gene results in lysosomal accumulation of glucocerebroside in mononuclear phagocytes …