Lu, Wen-LiWen-LiLuYIN-HSIU CHIENTsai, Fuu-JenFuu-JenTsaiWUH-LIANG ​​HWUChou, Yen-YinYen-YinChouChu, Shao-YinShao-YinChuMENG-JU LILee, An-JuAn-JuLeeLiao, Chao-ChuanChao-ChuanLiaoWang, Chung-HsingChung-HsingWangNI-CHUNG LEE2023-10-312023-10-312023-09-151750-1172https://scholars.lib.ntu.edu.tw/handle/123456789/636682Gaucher 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.enEnzyme replacement therapy; Gaucher disease; Newborn screening; Phenotype[SDGs]SDG3journal article10.1186/s13023-023-02895-z377152712-s2.0-85171411994https://api.elsevier.com/content/abstract/scopus_id/85171411994