Article
Phenotypic Spectrum of Type 2-3 Gaucher Disease: A Case Study in the Balkan Genotype.
The American journal of case reports - 15 Jan 2026
Cullufi Paskal, Velmishi Virtut, Dervishi Ermira, Tomori Sonila, Hoxha Gladiola, Jazexhiu-Postoli Eda, Basha Entela, Tako Aferdita Kumaraku, Tabaku Mirela
Abstract excerpt
BACKGROUND Gaucher disease (GD) is a lysosomal storage disorder caused by mutations in the glucosylceramidase beta 1 (GBA1) gene, with a wide range of clinical manifestations. Type 2 GD, the acute neuronopathic form, is the most severe and has historically been considered a distinct clinical entity. Emerging evidence suggests a broader phenotypic spectrum, including intermediate forms that do not fully align with...
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