Associated Papers
L-2-hydroxyglutarate impairs neuronal differentiation through epigenetic activation of MYC expression.
Gu W et al.
Biorxiv : the Preprint Server for Biology, 2025
Riboflavin treatment in L-2-hydroxyglutaric aciduria: report on a pediatric patient and literature review.
Lipiński P et al.
Journal of Applied Genetics, 2025
Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility.
Manisha KY et al.
Neurology. Genetics, 2024
L-2-hydroxyglutaric aciduria - review of literature and case series.
Ahmed S et al.
Annals of Medicine and Surgery (2012), 2023
In Silico Analysis of the L-2-Hydroxyglutarate Dehydrogenase Gene Mutations and Their Biological Impact on Disease Etiology.
Muzammal M et al.
Genes, 2022
Evaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria.
Zübarioğlu T et al.
Turk Pediatri Arsivi, 2020
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.
Steenweg ME et al.
Human Mutation, 2010
Prevalence, Clinic-Etiological Spectrum and Outcome of Pediatric Metabolic Epilepsy - A Single Centre Experience.
Cornelius LP et al.
Annals of Indian Academy of Neurology, 0
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