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Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis.

Molecular genetics and metabolism

Rowe OE, Rangaprakash D, Weerasekera A, Godbole N, Haxton E, James PF, Stephen CD, Barry RL, Eichler FS, Ratai EM.
PMID: 34226107
Mol Genet Metab. 2021 Aug;133(4):386-396. doi: 10.1016/j.ymgme.2021.06.008. Epub 2021 Jun 24.

OBJECTIVE: Our study aimed to quantify structural changes in relation to metabolic abnormalities in the cerebellum, thalamus, and parietal cortex of patients with late-onset GM2-gangliosidosis (LOGG), which encompasses late-onset Tay-Sachs disease (LOTS) and Sandhoff disease (LOSD).METHODS: We enrolled 10...

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