Article
Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease.
Orphanet journal of rare diseases - 17 Dec 2020
Donald Aimee, Tan Chong Y, Chakrapani Anupam, Hughes Derralyn A, Sharma Reena, Cole Duncan, Bardins Stanislav, Gorges Martin, Jones Simon A, Schneider Erich
Abstract excerpt
BACKGROUND: Neurological forms of Gaucher disease, the inherited disorder of β-Glucosylceramidase caused by bi-allelic variants in GBA1, is a progressive disorder which lacks a disease-modifying therapy. Systemic manifestations of disease are effectively treated with enzyme replacement therapy, however, molecules which cross the blood-brain barrier are still under investigation. Clinical trials of such...
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