L-2-hydroxyglutaric aciduria - review of literature and case series.

Sibtain Ahmed Ayra Siddiqui Ralph J DeBerardinis Min Ni Wen Gu LaiFeng CaiHieu S VuBushra Afroze

Published in: Annals of medicine and surgery (2012) (2023)

Neuroradiological features of centripetal subcortical leukoencephalopathy with basal ganglia and dentate nuclei involvement are rather specific to L2HGA and should lead to further biochemical investigations to look for L2HGA and L2HGDH gene sequencing.

Keyphrases

copy number
single cell
genome wide
white matter
genome wide identification
multiple sclerosis
dna methylation
gene expression