Associated Papers
Autism Spectrum Disorder and Mild Developmental Delay in a Patient with a Rare Inborn Error of Metabolism.
De Biase I et al.
Clinical Chemistry, 2024
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
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