Ontology highlight
ABSTRACT:
SUBMITTER: Dahl M
PROVIDER: S-EPMC7806948 | biostudies-literature | 2021 Mar
REPOSITORIES: biostudies-literature
Dahl Maria M Smith Emma M K EMK Warsi Sarah S Rothe Michael M Ferraz Maria J MJ Aerts Johannes M F G JMFG Golipour Azadeh A Harper Claudia C Pfeifer Richard R Pizzurro Daniella D Schambach Axel A Mason Chris C Karlsson Stefan S
Molecular therapy. Methods & clinical development 20201203
Gaucher disease type 1 (GD1) is an inherited lysosomal disorder with multisystemic effects in patients. Hallmark symptoms include hepatosplenomegaly, cytopenias, and bone disease with varying degrees of severity. Mutations in a single gene, glucosidase beta acid 1 (<i>GBA1</i>), are the underlying cause for the disorder, resulting in insufficient activity of the enzyme glucocerebrosidase, which in turn leads to a progressive accumulation of the lipid component glucocerebroside. In this study, we ...[more]