Gaucher disease, the most common lysosomal storage disorder, is a heterogeneous
multisystem condition. Patients with non-neuronopathic (type 1) Gaucher disease may suffer …

Gaucher disease is the commonest lysosomal storage disease seen in India and worldwide.
It should be considered in any child or adult with an unexplained splenohepatomegaly and …

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

OBJECTIVE. The objective of this study was to characterize the clinical features of patients
with Niemann-Pick disease type B and to identify efficacy end points for future clinical trials …

The human immune system is capable of recognizing and degrading chitin, an important cell
wall component of pathogenic fungi. In the context of host‐immune responses to fungal …

Introduction Mutations in the GBA gene, encoding for the lysosomal enzyme
glucocerebrosidase, are associated with Gaucher disease. Alterations in plasma …

Dosing of enzyme replacement therapy (ERT) for Gaucher disease type 1 is still a subject of
debate and varies from 15 to 130 U/kg/mo, making a huge economic difference of US …

PURPOSE:: Gaucher disease is an exemplary orphan disorder. Enzyme replacement
therapy with imiglucerase is effective, but very expensive. To improve the assessment of …

Objective—This study was undertaken to analyze the relation between serum activity of
chitotriosidase enzyme, a protein synthesized exclusively by activated macrophages, and …

Pancytopenia, hepatosplenomegaly and skeletal complications are hallmarks of Gaucher
disease. Monitoring of the outcome of therapy on skeletal status of Gaucher patients is …