A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review

ConclusionThe results suggested that NGS could provide clues for identifying patients with abnormal neuroradiological findings in the subcortical white matter.

https://link.springer.com/10.1007/s10072-018-3483-2

Source: Neurological Sciences - October 1, 2018 Category: Neurology Source Type: research