Novel neuropathological findings in a long-term survivor of D-2-hydroxyglutaric aciduria type 1
Author:
Funder
Rossy Family Foundation
Edmond J. Safra Philanthropic Foundation
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s00428-024-03868-8.pdf
Reference15 articles.
1. Chalmers RA, Lawson AM, Watts RWE et al (1980) D-2-hydroxyglutaric aciduria: case report and biochemical studies. J Inherit Metab Dis 3:11–15
2. Duran M, Kamerling JP, Bakker HD et al (1980) L-2-hydroxyglutaric aciduria: an inborn error of metabolism? J Inherit Metab Dis 3:109–112
3. Muntau AC, Röschinger W, Merkenschlager A et al (2000) Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria? Neuropediatrics 31:137–140. https://doi.org/10.1055/s-2000-7497
4. Achouri Y, Noël G, Vertommen D et al (2004) Identification of a dehydrogenase acting on D-2-hydroxyglutarate. Biochemical Journal 381:35–42. https://doi.org/10.1042/BJ20031933
5. Rzem R, Veiga-Da-Cunha M, Noël G et al (2004) A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. Proc Natl Acad Sci U S A 101:16849–16854. https://doi.org/10.1073/pnas.0404840101
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