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N. Samonenko

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Open access Aug 2026

Clinical and genetic landscape of neuronopathic gaucher disease in Ukraine: hepatosplenomegaly and diagnostic delay

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 patterns in Eastern European populations remain limited. We con...

N. Samonenko, N. Olkhovych, O. Okhotnikova et al. · 0 citations

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