NewsORPHANET JOURNAL OF RARE DISEASESFriday, April 3, 2026 · April 3, 2026
Exploring delayed diagnosis in Gaucher disease: insights from a community survey and potential solutions.
WHY IT MATTERS
Recent peer-reviewed research on Gaucher disease that may be relevant for patients and caregivers.
Gaucher disease is a rare lysosomal storage disorder caused by insufficient activity of the enzyme β-glucocerebrosidase. This leads to the accumulation of fatty deposits in cells and tissues and damages multiple organ systems. Diagnosing Gaucher disease often involves a prolonged and challengi...
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