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Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
Hum Mutat. 2010 Mar;31(3):279-83. doi: 10.1002/humu.21186.
Hum Mutat. 2010.
PMID: 20020533
Structure, substrate specificity, and catalytic mechanism of human D-2-HGDH and insights into pathogenicity of disease-associated mutations.
Yang J, Zhu H, Zhang T, Ding J.
Yang J, et al.
Cell Discov. 2021 Jan 12;7(1):3. doi: 10.1038/s41421-020-00227-0.
Cell Discov. 2021.
PMID: 33431826
Free PMC article.
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