Article

Changing clinical manifestations of Gaucher disease in Taiwan

2022-07-07

Abstract excerpt

<title>Abstract</title> <p>Background Gaucher disease (GD) is a lysosomal storage disorder characterized by deficient glucocerebrosidase activity that results from biallelic mutations in the <italic>GBA</italic> 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 pa...

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Literature Corpus work: 08aa5730-3858-5c28-bc81-027a2dca593e
DOI: 10.21203/rs.3.rs-1799385/v1

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