Associated Papers
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
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 ten novel mutations in the L2HGDH gene.
Sass JO et al.
Journal of Inherited Metabolic Disease, 2008
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