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Changes in the cerebellum in L-2-hydroxyglutaric aciduria (MRI)

T2-weighted MRI in the index case of a Chinese family with L-2-hydroxyglutaric aciduria showed symmetrical, high-signal changes in the cerebellar dentate nuclei, and the right cerebellar hemisphere and vermis showed dysplasia. (Source: Peng W, Ma XW, Yang X, et al. Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria. BMC Med Genet 2018;19[1]:167. Creative Commons Attribution 4.0 License,

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