Article

Clinical and Genetic Landscape of Neuronopathic Gaucher Disease in Ukraine: Hepatosplenomegaly and Diagnostic Delay

2026-04-19

Abstract excerpt

<title>Abstract</title> <p> <bold>Background:</bold> 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. <bold>Methods:</bold> We conducted a retrospe...

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Literature Corpus work: edf6aba6-15d4-5a65-9e8c-78d7b8f65b56
DOI: 10.21203/rs.3.rs-9348927/v1

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