Changing clinical manifestations of Gaucher disease in Taiwan.
Wen-Li LuYin-Hsiu ChienFuu-Jen TsaiWuh-Liang HwuYen-Yin ChouShao-Yin ChuMeng-Ju LiAn-Ju LeeChao-Chuan LiaoChung-Hsing WangHung-Chang LeePublished in: Orphanet journal of rare diseases (2023)
ERT is essential in reversing the hematological presentations and preventing the skeletal complications of GD. Timely diagnosis of GD with NBS allows for early intervention with ERT to prevent disease progression and complications. However, the need for effective intervention for neurological dysfunction remains unmet.