Institution
National Scientific Center "M.D. Strazhesko Institute of Cardiology"
UAfacility
Recent research
- Health & MedicineOpen access
Abstract Background Neuronopathic Gaucher disease (GD types II and III) represents rare and severe phenotypes of glucocerebrosidase deficiency, characterized by neurological involvement and variable systemic manifestations. Data on clinical presentation and genotype–phenotype pat...