Alpha-Synuclein mRNA Level Found Dependent on L444P Variant in Carriers and Gaucher Disease Patients...
Alpha-Synuclein mRNA Level Found Dependent on L444P Variant in Carriers and Gaucher Disease Patients on Enzyme Replacement Therapy
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Switzerland: MDPI AG
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Language
English
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Publisher
Switzerland: MDPI AG
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Contents
Gaucher disease (GD) is the most frequent sphingolipidosis, caused by biallelic pathogenic variants in the GBA1 gene encoding for β-glucocerebrosidase (GCase, E.C. 3.2.1.45). The condition is characterized by hepatosplenomegaly, hematological abnormalities, and bone disease in both non-neuronopathic type 1 (GD1) and neuronopathic type 3 (GD3). Inte...
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Alpha-Synuclein mRNA Level Found Dependent on L444P Variant in Carriers and Gaucher Disease Patients on Enzyme Replacement Therapy
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TN_cdi_doaj_primary_oai_doaj_org_article_0c7ce5d3a985460f9ee8a8057bc41750
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_0c7ce5d3a985460f9ee8a8057bc41750
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ISSN
2218-273X
E-ISSN
2218-273X
DOI
10.3390/biom13040644
