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28-02-2024 | Gaucher Disease | Review article

A review of type 3 Gaucher disease: unique neurological manifestations and advances in treatment

Authors: Wei Zhong, Dan Li, Yue Fei, Pan Hong

Abstract

Gaucher disease (GD) is a rare lysosomal storage disease that is caused by mutations in the GBA gene. It is classified into three main phenotypes according to the patient’s clinical presentation. Of these, chronic neuronopathic GD (GD3) is characterized by progressive neurological damage. Understanding the unique neurological manifestations of GD3 has important diagnostic and therapeutic implications. Our article summarizes the neurological symptoms specific to GD3 and related therapeutic advances, and it highlights the relevance of the gene to clinical symptoms, so as to provide a reference for the diagnosis and treatment of GD3.

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Title: A review of type 3 Gaucher disease: unique neurological manifestations and advances in treatment
Authors: Wei Zhong
Dan Li
Yue Fei
Pan Hong
Publication date: 28-02-2024
Publisher: Springer International Publishing
Keywords: Gaucher Disease
Gaucher Disease
Gaucher Disease
Published in: Acta Neurologica Belgica
Print ISSN: 0300-9009
Electronic ISSN: 2240-2993
DOI: https://doi.org/10.1007/s13760-024-02493-1

Keynote webinar | Spotlight on medication adherence

Springer Medicine

A review of type 3 Gaucher disease: unique neurological manifestations and advances in treatment

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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