Glycogen Storage Disease

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Koch, R. L., Soler-Alfonso, C., Kiely, B. T., Asai, A., Smith, A. L., Bali, D. S., Kang, P. B., Landstrom, A. P., Akman, H. O., Burrow, T. A., Orthmann-Murphy, J. L., Goldman, D. S., Pendyal, S., El-Gharbawy, A. H., Austin, S. L., Case, L. E., Schiffmann, R., Hirano, M., & Kishnani, P. S. (2023). Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource. Molecular Genetics and Metabolism, 138(3), 107525. https://doi.org/10.1016/j.ymgme.2023.107525
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Zebhauser, P. T., Cordts, I., Hengel, H., Haslinger, B., Lingor, P., Akman, H. O., Haack, T. B., & Deschauer, M. (2022). Characterization of cognitive impairment in adult polyglucosan body disease. Journal of Neurology, 269(6), 2854–2861. https://doi.org/10.1007/s00415-022-10960-z
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Kakhlon, O., Vaknin, H., Mishra, K., D’Souza, J., Marisat, M., Sprecher, U., Wald‐Altman, S., Dukhovny, A., Raviv, Y., Da’adoosh, B., Engel, H., Benhamron, S., Nitzan, K., Sweetat, S., Permyakova, A., Mordechai, A., Akman, H. O., Rosenmann, H., Lossos, A., … Weil, M. (2021). Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism. EMBO Molecular Medicine, 13(10). Portico. https://doi.org/10.15252/emmm.202114554
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