Gaucher disease – more than just a rare lipid storage disease
Gaucher disease – more than just a rare lipid storage disease
About this item
Full title
Author / Creator
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
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Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
Gaucher disease (GD), one of the most common lysosomal storage diseases, is caused by mutations in the gene,
GBA1
, that leads to defective glucocerebrosidase activity resulting in the accumulation and storage of glycosphingolipids. However, the pathophysiology of GD is more complicated leading to various associated conditions such as skeleta...
Alternative Titles
Full title
Gaucher disease – more than just a rare lipid storage disease
Authors, Artists and Contributors
Author / Creator
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Record Identifier
TN_cdi_proquest_miscellaneous_2622480552
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2622480552
Other Identifiers
ISSN
0946-2716
E-ISSN
1432-1440
DOI
10.1007/s00109-021-02174-z
