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Results 1 - 3 of 3 for "D-2-hydroxyglutaric" aciduria 1
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  1. 2-hydroxyglutaric aciduria 
    ... in their family. 2-HGA Genetic Testing Registry: D-2-hydroxyglutaric aciduria 1 Genetic Testing Registry: D-2-hydroxyglutaric aciduria 2 ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov D-2-HYDROXYGLUTARIC ACIDURIA 1; D2HGA1 L-2-HYDROXYGLUTARIC ACIDURIA; L2HGA D-2- ...
    https://medlineplus.gov/.../condition/2-hydroxyglutaric-aciduria - Genetics
  2. D2HGDH gene 
    ... or Free article on PubMed Central Struys EA. D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect. J Inherit Metab Dis. 2006 Feb;29(1):21-9. doi: 10.1007/s10545-006-0317- ...
    https://medlineplus.gov/genetics/gene/d2hgdh - Genetics
  3. IDH2 gene 
    ... a type of 2-hydroxyglutaric aciduria known as D-2-hydroxyglutaric aciduria (D-2-HGA) type II. This condition has ... C, Salomons GS. IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science. 2010 Oct 15;330(6002):336. doi: ...
    https://medlineplus.gov/genetics/gene/idh2 - Genetics