Associated Papers
Homozygous GBA1 p.T82I variant in type 1 Gaucher disease: clinical and biochemical characterization.
Genc S et al.
Personalized Medicine, 2025
A benign course of Parkinson's disease associated with different mutations in the glucocerebrosidase gene - A case series.
Cohen ME et al.
Parkinsonism & Related Disorders, 2024
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
The Bone Biomarker of Quantitative Chemical Shift Imaging in Patients with Type 1 Gaucher Disease Receiving Low-Dose Long-Term Enzyme Replacement Therapy.
Zimran A et al.
Journal of Clinical Medicine, 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
Proinflammatory and proosteoclastogenic potential of peripheral blood mononuclear cells from Gaucher patients: Implication for bone pathology.
Mucci JM et al.
Blood Cells, Molecules & Diseases, 2015
Histologic findings of femoral heads from patients with Gaucher disease treated with enzyme replacement.
Lebel E et al.
American Journal of Clinical Pathology, 2013
Hematologically important mutations: Gaucher disease.
Beutler E et al.
Blood Cells, Molecules & Diseases, 0
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