Associated Papers
Focal dystonia in an adult with L-2- hydroxyglutaric aciduria.
AlBalawy S et al.
Saudi Medical Journal, 2024
In Silico Analysis of the L-2-Hydroxyglutarate Dehydrogenase Gene Mutations and Their Biological Impact on Disease Etiology.
Muzammal M et al.
Genes, 2022
A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family.
Muzammal M et al.
Metabolic Brain Disease, 2022
Evaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria.
Zübarioğlu T et al.
Turk Pediatri Arsivi, 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
Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.
Ullah MI et al.
Bmc Medical Genetics, 2018
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Najmabadi H et al.
Nature, 2011
Clinical, genetic and magnetic resonance findings in an Italian patient affected by L-2-hydroxyglutaric aciduria.
Mazzei R et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2011
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
L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.
Topçu M et al.
Human Molecular Genetics, 2004
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