A new algorithm that examines neurological and oculomotor signs may make it much easier to diagnose certain “often overlooked” rare neurological…
Articles by Marisa Wexler MS
Stem cell therapy given via intravenous injection eased symptoms and prolonged survival in a mouse model of Gaucher disease…
The case of a Gaucher disease patient who received a lung transplant to treat pulmonary hypertension calls into…
Pentosan polysulfate (PPS), an approved medicine, may be a potential add-on treatment for Gaucher disease, helping reduce inflammation and bone…
A new mouse model of Gaucher disease type 3 may be more useful for studies of disease biology and preliminary…
Lack of a functional protein called saposin C protein and different mutations affecting its coding gene can significantly affect the…
Using machine-learning approaches, researchers unraveled how certain mutations in the GBA gene — responsible for Gaucher disease — affect the function…
A new study reports the spectrum of mutations present in Gaucher disease patients in India, identifying four previously unknown mutations and…
Enzyme replacement therapy (ERT) can help restore the normal organelle recycling processes that happen in cells, improving energy production…
A computer simulation — examining how some therapies interact with the two most common β-glucocerebrosidase (GBA) mutated forms in Gaucher…