Gaucher disease type 3 from infancy through adulthood: a conceptual model of signs, symptoms, and impacts associated with ataxia and cognitive impairment

Gaucher disease type 3 from infancy through adulthood: a conceptual model of signs, symptoms, and impacts associated with ataxia and cognitive impairment

Abstract Background Gaucher disease type 3 (GD3) is a lysosomal storage disease characterized by diverse neurological and systemic manifestations. Symptoms of ataxia, cognitive impairment, and other systemic symptoms profoundly impact daily activities and the quality of life for individuals living w...

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Bibliographic Details
Main Authors: Raphael Schiffmann, James Turnbull, Robert Krupnick, Ruth Pulikottil-Jacob, Chad Gwaltney, Alaa Hamed, Isabela Batsu, Walter Heine, Eugen Mengel
Format: Article
Language:English
Published: BMC 2025-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Gaucher disease
GD3
Ataxia
Cognitive impairment
Conceptual model
Online Access:https://doi.org/10.1186/s13023-025-03654-y
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https://doi.org/10.1186/s13023-025-03654-y

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