Late-onset cerebellar ataxia and a new frameshift L2HGDH mutation in a Chinese adult with L-2-hydroxyglutaric aciduria: a case report
Author:
Funder
Zhejiang medicine and health science and technology project
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s13760-024-02514-z.pdf
Reference6 articles.
1. Rzem R, Veiga-da-Cunha M, Noël G, Goffette S, Nassogne M, Tabarki B (2004) A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. Proc Natl Acad Sci USA 101:16849–16854. https://doi.org/10.1073/pnas.0404840101
2. Bozaci Ayse Ergül., Er Esra., Ünal Aysel Tekmenuray., Taş İbrahim., Ayaz Ercan., Ozbek Mehmet Nuri. (2023). Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey. Mol Genet Metab Rep, 36(undefined), 100979. https://doi.org/10.1016/j.ymgmr.2023.100979
3. Zübarioğlu Tanyel., Yalçınkaya Cengiz., Oruç Çiğdem., Kıykım Ertuğrul., Cansever Mehmet Şerif., Gezdirici Alper. (2020). Evaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria. Turk Pediatri Ars, 55(3), 290–298. https://doi.org/10.14744/TurkPediatriArs.2019.06926
4. Steenweg ME, Jakobs C, Errami A, van Dooren SJ, Adeva Bartolome MT, Aerssens P (2010) An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. Hum Mutat 31:380–390. https://doi.org/10.1002/humu.21197
5. Rzem R, Van Schaftingen E, Veiga-da-Cunha M (2006) The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase. Biochimie 88:113–116. https://doi.org/10.1016/j.biochi.2005.06.005
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