Changing clinical manifestations of Gaucher disease in Taiwan
Changing clinical manifestations of Gaucher disease in Taiwan
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Publisher
London: BioMed Central Ltd
Journal title
Language
English
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Publisher
London: BioMed Central Ltd
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Scope and Contents
Contents
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...
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Full title
Changing clinical manifestations of Gaucher disease in Taiwan
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TN_cdi_doaj_primary_oai_doaj_org_article_5f203ea9af2e4503addb3c547dbeafed
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_5f203ea9af2e4503addb3c547dbeafed
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-023-02895-z
