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Article

A novel mutation as a cause of L-2-hydroxyglutaric aciduria.

Journal of neurology - 1 Apr 2009

O'Connor Ged, King M, Salomons G, Jakobs C, Hardiman O

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Identifiers

PMID: 19444541
DOI: 10.1007/s00415-009-0107-z

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Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.Semantic proximity Read ↗

A novel compound heterozygous mutation in a Chinese boy with L-2-hydroxyglutaric aciduria: a case study.Semantic proximity Read ↗

Loss of function variants in L2HGDH gene causing L-2-hydroxyglutaric aciduria.Semantic proximity Read ↗

D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect.Semantic proximity Read ↗

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