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Results 1 - 5 of 5 for "2-hydroxyglutarate" aciduria
  1. 2-hydroxyglutaric aciduria 
    ... Verhoeven NM, Jakobs C. Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. Am J Hum Genet. 2005 Feb;76(2): ...
    https://medlineplus.gov/.../condition/2-hydroxyglutaric-aciduria - Genetics
  2. D2HGDH gene 
    ... Verhoeven NM, Jakobs C. Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. Am J Hum Genet. 2005 Feb;76(2): ... on PubMed Central Struys EA. D-2-Hydroxyglutaric aciduria: unravelling the ... 10.1007/s10545-006-0317-9. Citation on PubMed
    https://medlineplus.gov/genetics/gene/d2hgdh - Genetics
  3. L2HGDH gene 
    ... M. The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase. Biochimie. 2006 Jan;88(1):113-6. ... Knaap MS, Salomons GS. An overview of L-2-hydroxyglutarate dehydrogenase gene ... T. L-2-hydroxyglutaric aciduria: a report of 29 patients. Turk J Pediatr. ...
    https://medlineplus.gov/genetics/gene/l2hgdh - Genetics
  4. IDH2 gene 
    ... IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science. 2010 ... (R)-2-hydroxyglutarate is sufficient to promote leukemogenesis and its effects ...
    https://medlineplus.gov/genetics/gene/idh2 - Genetics
  5. SLC25A1 gene 
    ... up abnormally within cells. These compounds include D-2-hydroxyglutarate and L-2-hydroxyglutarate, which at high levels can damage cells and ... causes combined D-2- and L-2-hydroxyglutaric aciduria. Am J Hum Genet. 2013 Apr 4;92( ...
    https://medlineplus.gov/genetics/gene/slc25a1 - Genetics