Recent advances in the diagnosis and management of Gaucher disease.

Abstract excerpt

INTRODUCTION: Gaucher disease, the autosomal recessive deficiency of the lysosomal enzyme glucocerebrosidase, is associated with wide phenotypic diversity including non-neuronopathic, acute neuronopathic, and chronic neuronopathic forms. Overlap between types can render definitive diagnoses difficult. However, differentiating between the different phenotypes is essential due to the vast differences in clinical...

Topics

• Enzyme Replacement Therapy
• Gaucher Disease
• Humans
• Phenotype
• Quality of Life