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Patient V8 in a consanguineous Pakistani family with a novel protein-truncating mutation in L2HGDH causing L‐2‐hydroxyglutaric aciduria (CT panel)

The images show extensive white matter abnormalities. (Source: Muzammal M, Ali MZ, Brugger B, et al. A novel protein-truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family. Metab Brain Dis 2022;37[1]:243-52. Creative Commons Attribution 4.0 License, https://creativecommons.org/licenses/by/4.0.)

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