Associated Papers
Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry.
Elstein D et al.
Journal of Clinical Medicine, 2024
38930117 (PubMed )
Supplement: jcm-13-03588-s001.zip › jcm-2997111-supplementary.pdf
Alpha-Synuclein mRNA Level Found Dependent on L444P Variant in Carriers and Gaucher Disease Patients on Enzyme Replacement Therapy.
Dubiela P et al.
Biomolecules, 2023
Safety, Pharmacokinetics, and Pharmacodynamics of Oral Venglustat in Patients with Parkinson's Disease and a GBA Mutation: Results from Part 1 of the Randomized, Double-Blinded, Placebo-Controlled MOVES-PD Trial.
Peterschmitt MJ et al.
Journal of Parkinson's Disease, 2022
34897099 (PubMed )
Supplement: jpd-12-jpd212714-s001.pdf
Gene expression profile in patients with Gaucher disease indicates activation of inflammatory processes.
Ługowska A et al.
Scientific Reports, 2019
Tandem mass spectrometry assay of β-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay.
Wolf P et al.
Molecular Genetics and Metabolism, 2018
Hematologically important mutations: Gaucher disease.
Beutler E et al.
Blood Cells, Molecules & Diseases, 0
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