Associated Papers
Gaucher disease type 3: Classification of the chronic neuronopathic variant informed by genotype in a phenotypically diverse cohort.
Donald A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
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
Rapid and long-lasting efficacy of high-dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review.
Higashi K et al.
Molecular Genetics & Genomic Medicine, 2024
38553911 (PubMed )
Supplement: MGG3-12-e2427-s001.docx
In-depth phenotyping for clinical stratification of Gaucher disease.
D'Amore S et al.
Orphanet Journal of Rare Diseases, 2021
34649574 (PubMed )
Supplement: 13023_2021_2034_MOESM1_ESM.pdf
Expanding the clinical utility of glucosylsphingosine for Gaucher disease.
Saville JT et al.
Journal of Inherited Metabolic Disease, 2020
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