Diagnosing Gaucher Disease Still A Problem

In this exclusive interview with Neal Weinreb MD, FACP, Director of the  University Research Foundation for Lysosomal Storage Diseases Inc in Coral Springs and Boca Raton, Florida, Dr. Weinreb discusses one of the major problems still facing the Gaucher patient - being diagnosed.

About Gaucher Disease

Gaucher disease is an inherited lysosomal storage disorder in which a deficiency of the enzyme glucocerebrosidase leads to the accumulation of the lipid glucocerebroside within the lysosomes of the monocyte-macrophage system. The most common form of this rare disease is Gaucher type 1 and its current treatment options are:
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