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GBA1 mutations underlying Gaucher disease are not a good prognostic factor for the likelihood of patients developing Parkinson’s disease, according to the results of the study “Clinical course and prognosis in patients with Gaucher disease and parkinsonism,” published in the journal Neurology Genetics. A small fraction…

Fatigue is a debilitating symptom of Gaucher disease (GD) patients that substantially impairs their quality of life, but is usually not clinically assessed by physicians. A new study, entitled “Rethinking fatigue in Gaucher disease,” and published in the Orphanet Journal of Rare Diseases, now…

Scientists in the Netherlands have made a discovery that may advance the treatment of the genetic disorder known as Pompe disease. Along with co-workers in England, they found a possible blocker to halt the disease’s progression, which might also aid in the development of diagnostics and treatments for Gaucher disease. The study, “…