Creatine

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Goldstein, J., Thomas-Wilson, A., Groopman, E., Aggarwal, V., Bianconi, S., Fernandez, R., Hart, K., Longo, N., Liang, N., Reich, D., Wallis, H., Weaver, M., Young, S., & Mercimek-Andrews, S. (2024). ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes. Molecular Genetics and Metabolism, 142(1), 108362. https://doi.org/10.1016/j.ymgme.2024.108362
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Darabedian, N., Ji, W., Fan, M., Lin, S., Seo, H.-S., Vinogradova, E. V., Yaron, T. M., Mills, E. L., Xiao, H., Senkane, K., Huntsman, E. M., Johnson, J. L., Che, J., Cantley, L. C., Cravatt, B. F., Dhe-Paganon, S., Stegmaier, K., Zhang, T., Gray, N. S., & Chouchani, E. T. (2023). Depletion of creatine phosphagen energetics with a covalent creatine kinase inhibitor. Nature Chemical Biology, 19(7), 815–824. https://doi.org/10.1038/s41589-023-01273-x
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