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
Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study.
Curado F et al.
Diagnostics (basel, Switzerland), 2023
37685353 (PubMed )
Supplement: diagnostics-13-02812-s001.zip › diagnostics-2530284-supplementary.pdf
Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?
Dinur T et al.
International Journal of Molecular Sciences, 2022
35163551 (PubMed )
Supplement: ijms-23-01627-s001.zip › Table_S1.pdf
Comprehensive clinical, biochemical and genetic screening reveals four distinct GBA genotypes as underlying variable manifestation of Gaucher disease in a single family.
Cullufi P et al.
Molecular Genetics and Metabolism Reports, 2019
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