Associated Papers
Riboflavin treatment in L-2-hydroxyglutaric aciduria: report on a pediatric patient and literature review.
Lipiński P et al.
Journal of Applied Genetics, 2025
Structure and biochemical characterization of l-2-hydroxyglutarate dehydrogenase and its role in the pathogenesis of l-2-hydroxyglutaric aciduria.
Yang J et al.
The Journal of Biological Chemistry, 2024
37995940 (PubMed )
Supplement: mmc1.pdf
Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey.
Bozaci AE et al.
Molecular Genetics and Metabolism Reports, 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
The Wide Phenotypic Spectrum of L-2 Hydroxyglutaric Aciduria in Adults.
Mainka T et al.
Movement Disorders Clinical Practice, 2020
A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review.
Zhang Y et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2018
L-2 hydroxyglutaric aciduria as a rare cause of leukencephalopathy in adults.
Weimar C et al.
Clinical Neurology and Neurosurgery, 2013
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.
Steenweg ME et al.
Human Mutation, 2010
Identification of novel L2HGDH gene mutations and update of the pathological spectrum.
Vilarinho L et al.
Journal of Human Genetics, 2010
The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase.
Rzem R et al.
Biochimie, 2006
Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.
Vilarinho L et al.
Human Mutation, 2005
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