Associated Papers
Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D-2-hydroxyglutaric aciduria.
Perales-Clemente E et al.
Jimd Reports, 2021
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
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
Kranendijk M et al.
Human Mutation, 2010
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