Associated Papers
Structure, substrate specificity, and catalytic mechanism of human D-2-HGDH and insights into pathogenicity of disease-associated mutations.
Yang J et al.
Cell Discovery, 2021
D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.
Pop A et al.
Human Mutation, 2019
D2HGDH regulates alpha-ketoglutarate levels and dioxygenase function by modulating IDH2.
Lin AP et al.
Nature Communications, 2015
26178471 (PubMed )
Supplement: ncomms8768-s1.pdf
Progress in understanding 2-hydroxyglutaric acidurias.
Kranendijk M et al.
Journal of Inherited Metabolic Disease, 2012
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
Kranendijk M et al.
Human Mutation, 2010
Peripheral neuropathy in a patient with D-2-hydroxyglutaric aciduria.
Haliloglu G et al.
Journal of Inherited Metabolic Disease, 2009
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