https://scholars.lib.ntu.edu.tw/handle/123456789/636682
標題: | Changing clinical manifestations of Gaucher disease in Taiwan | 作者: | Lu, Wen-Li YIN-HSIU CHIEN Tsai, Fuu-Jen WUH-LIANG HWU Chou, Yen-Yin Chu, Shao-Yin MENG-JU LI Lee, An-Ju Liao, Chao-Chuan Wang, Chung-Hsing NI-CHUNG LEE |
關鍵字: | Enzyme replacement therapy; Gaucher disease; Newborn screening; Phenotype | 公開日期: | 15-九月-2023 | 卷: | 18 | 期: | 1 | 來源出版物: | Orphanet journal of rare diseases | 摘要: | 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 neurological manifestations. Enzyme replacement therapy (ERT) has been available for all patients with GD in Taiwan since 1998. Newborn screening (NBS) for GD has been available since 2015. This study attempted to unveil the clinical features of patients diagnosed with GD during different eras in Taiwan. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/636682 | ISSN: | 1750-1172 | DOI: | 10.1186/s13023-023-02895-z |
顯示於: | 醫學系 |
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