Dietary management and access to treatment for patients with glucose deficiency syndrome type 1: an overview review with focus on the European regulatory framework
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Publisher
Springer Science and Business Media LLC
Link
https://www.nature.com/articles/s41430-024-01490-0.pdf
Reference42 articles.
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2. Larsen J, Johannesen KM, Ek J, Tang S, Marini C, Blichfeldt S, et al. The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. Epilepsia. 2015;56:e203–8. https://doi.org/10.1111/epi.13222
3. Ramm-Pettersen A, Nakken KO, Skogseid IM, Randby H, Skei EB, Bindoff LA, et al. Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study. Dev Med Child Neurol. 2013;55:440–7. https://doi.org/10.1111/dmcn.12096
4. Coman DJ, Sinclair KG, Burke CJ, Appleton DB, Pelekanos JT, O’Neil CM, et al. Seizures, ataxia, developmental delay and the general paediatrician: glucose transporter 1 deficiency syndrome. J Paediatr Child Health. 2006;42:263–7. https://doi.org/10.1111/j.1440-1754.2006.00852.x
5. Tang M, Park SH, De Vivo DC, Monani UR. Therapeutic strategies for glucose transporter 1 deficiency syndrome. Ann Clin Transl Neurol. 2019;6:1923–32. https://doi.org/10.1002/acn3.50881
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