Associated Papers
The broad spectrum of clinical manifestations observed in three patients with L2 hydroxyglutaric aciduria spans from febrile seizures to complex dystonia.
Alsayed A et al.
Molecular Genetics and Metabolism Reports, 2024
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
Clinical, neuroimaging and genetic findings in children with hereditary ataxia: single center study.
Bildirici Y et al.
Molecular Biology Reports, 2023
Evaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria.
Zübarioğlu T et al.
Turk Pediatri Arsivi, 2020
A 7-year-old Boy with Hand Tremors and a Novel Mutation for L-2-hydroxyglutaric Aciduria.
Olgac A et al.
Balkan Journal of Medical Genetics : Bjmg, 2019
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