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Last Updated : 05/19/2022

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Found 4 publications

Atypical presentation of late-onset Sandhoff disease: a case report.

Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants.

Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients.

A feasibility study of mHealth and wearable technology in late onset GM2 gangliosidosis (Tay-Sachs and Sandhoff Disease).

Showing 1-4 of 4

Last Updated : 05/19/2022