Case of late-onset Sandhoff disease due to a novel mutation in the gene.

Neurol Genet

Department of Neurology (A.R.S.), Baylor College of Medicine; Neurology Care Line (P.M.), Michael E. DeBakey Veterans Affairs Medical Center; and Nerve and Muscle Center of Texas (A.S.), Houston, TX.

Published: August 2018

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6066361PMC
http://dx.doi.org/10.1212/NXG.0000000000000260DOI Listing

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