Carbohydrate Metabolism, Inborn Errors

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Mochel, F., Gras, D., Luton, M.-P., Nizou, M., Giovannini, D., Delattre, C., Aubart, M., Barth, M., De Saint-Martin, A., Doummar, D., Essid, N., Garros, A., Le Camus, C. H., Hoebeke, C., The Tich, S. N., Perivier, M., Rivera, S., Rolland, A., Roubertie, A., … Moriceau, S. (2023). Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome. Neurology, 100(23). https://doi.org/10.1212/wnl.0000000000207296
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Tayebi, N., Leon‐Ricardo, B., McCall, K., Mehinovic, E., Engelstad, K., Huynh, V., Turner, T. N., Weisenberg, J., Thio, L. L., Hruz, P., Williams, R. S. B., De Vivo, D. C., Petit, V., Haller, G., & Gurnett, C. A. (2023). Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome. Annals of Clinical and Translational Neurology, 10(5), 787–801. Portico. https://doi.org/10.1002/acn3.51767
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