Associated Papers
In Silico Analysis of the L-2-Hydroxyglutarate Dehydrogenase Gene Mutations and Their Biological Impact on Disease Etiology.
Muzammal M et al.
Genes, 2022
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: presentation of a family diagnosed in adulthood].
Adeva-Bartolomé MT et al.
Neurologia (barcelona, Spain), 2009
A novel mutation as a cause of L-2-hydroxyglutaric aciduria.
O'Connor G et al.
Journal of Neurology, 2009
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