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 …

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

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 …

Importance Gaucher disease type 1 is characterized by hepatosplenomegaly, anemia,
thrombocytopenia, and skeletal disease. A safe, effective oral therapy is needed. Objective …

Study of the natural history of Gaucher disease has revealed marked phenotypic variation.
Correlations to genotypes could provide insight into individual susceptibility to varying …

Gaucher disease (GD) is an inherited error of metabolism due to a deficiency of
glucocerebrosidase. This leads to excessive storage of glucocerebroside in the liver, spleen …

This review presents a cohesive approach to treating patients with Gaucher disease. The
spectrum of the clinical presentation of the disease is broad, yet heretofore there was only …

During the last few years, much progress has been made in the treatment of lysosomal
storage disorders. In the past, no specific therapy was available for the affected patients, and …

Objective We studied the effect of long-term alglucerase/imiglucerase (Ceredase®/
Cerezyme®, Genzyme, a Sanofi company, Cambridge, MA, USA) treatment on …

Gaucher disease is a rare multi-systemic metabolic disorder caused by the inherited
deficiency of the lysosomal enzyme β-glucocerebrosidase, which leads to the accumulation …