Changing clinical manifestations of Gaucher disease in Taiwan

Changing clinical manifestations of Gaucher disease in Taiwan

Abstract Background Gaucher disease (GD) is a lysosomal storage disorder characterized by deficient glucocerebrosidase activity that results from biallelic mutations in the GBA1 gene. Its phenotypic variability allows GD to be classified into 3 subtypes based on the presence and extent of neurologic...

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Bibliographic Details
Main Authors: Wen-Li Lu, Yin-Hsiu Chien, Fuu-Jen Tsai, Wuh-Liang Hwu, Yen-Yin Chou, Shao-Yin Chu, Meng-Ju Li, An-Ju Lee, Chao-Chuan Liao, Chung-Hsing Wang, Ni-Chung Lee
Format: Article
Language:English
Published: BMC 2023-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Gaucher disease
Enzyme replacement therapy
Phenotype
Newborn screening
Online Access:https://doi.org/10.1186/s13023-023-02895-z

Internet

https://doi.org/10.1186/s13023-023-02895-z

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