Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

M. Huemer, D. Diodato, B. Schwahn, M. Schiff, A. Bandeira, J.-F. Benoist, A. Burlina, R. Cerone, M.L. Couce, A. Garcia-Cazorla, G. la Marca, E. Pasquini, L. Vilarinho, J.D. Weisfeld-Adams, V. Kožich, H. Blom, M.R. Baumgartner, C. Dionisi-Vici

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Huemer, M., Diodato, D., Schwahn, B., Schiff, M., Bandeira, A., Benoist, J-F., Burlina, A., Cerone, R., Couce, M. L., Garcia-Cazorla, A., la Marca, G., Pasquini, E., Vilarinho, L., Weisfeld-Adams, J. D., Kožich, V., Blom, H., Baumgartner, M. R., & Dionisi-Vici, C. (2017). Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. Journal of Inherited Metabolic Disease, 40(1), 21-48. https://doi.org/10.1007/s10545-016-9991-4