D‐2‐Hydroxyglutaric aciduria: Unravelling the biochemical pathway and the genetic defect
- 1 February 2006
- journal article
- review article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 29 (1), 21-29
- https://doi.org/10.1007/s10545-006-0317-9
Abstract
D‐2‐Hydroxyglutaric aciduria (D‐2‐HGA) is a neurometabolic inherited disorder first described in 1980. In the following years, it became clear that the clinical phenotype of the disease varies widely...Keywords
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