Associated Papers
Similarities and Differences in the Late-Onset GM2 Gangliosidoses: Tay-Sachs and Sandhoff Diseases.
Lewis CJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40970120 (PubMed )
Supplement: media-1.xlsx › HEXB
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.
Sheth J et al.
Jimd Reports, 2024
Clinical and imaging predictors of late-onset GM2 gangliosidosis: A scoping review.
Godbole NP et al.
Annals of Clinical and Translational Neurology, 2024
38009419 (PubMed )
Supplement: ACN3-11-207-s001.docx
Atypical presentation of late-onset Sandhoff disease: a case report.
Salamon A et al.
Ideggyogyaszati Szemle, 2021
Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis.
Rowe OE et al.
Molecular Genetics and Metabolism, 2021
Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening.
Kaseniit KE et al.
Clinical Genetics, 2019
31170325 (PubMed )
Supplement: CGE-96-236-s003.pdf
Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene.
Sung AR et al.
Neurology. Genetics, 2018
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