Measuring glucocerebrosidase (GCase) activity in dried blood spots is a reliable and cost-effective method to diagnose Gaucher disease early…
Articles by Iqra Mumal, MSc
Polyneuropathy — which refers to damage in peripheral nerves — is not a significant feature of Gaucher disease, particularly…
Most people with Gaucher disease (GD) would like to be informed by their health care provider at diagnosis…
Levels of the biomarkers cathepsin D, cathepsin S, YKL-40, and progranulin are not accurate enough to…
Glucosylsphingosine (lyso-Gb1) seems to be a useful biomarker for monitoring disease activity in children with Gaucher disease, helping…
Non-motor symptoms associated with the eventual development of Parkinson’s disease are prevalent in Gaucher disease type 1 patients…
Despite its well-known role in inflammation, the microRNA molecule known as miR-155 does not seem to be a promising target…
Newly discovered data on the activity of glucocerebrosidase after treatment with Sanofi Genzyme’s Cerezyme (imiglucerase) — an enzyme replacement therapy…
An excess of sphingolipids — a hallmark of Gaucher disease — contributes to an imbalance in bone formation and…
Hepatosplenomegaly — enlargement of the liver and spleen — can develop as a result of Gaucher disease in adults,…