M.E. Rubio Gozalbo

Estela Rubio-Gozalbo, M., Vos, E. N., Rivera, I., Lai, K., & Berry, G. T. (2025). Reshaping the Treatment Landscape of a Galactose Metabolism Disorder. Journal of Inherited Metabolic Disease, 48(2), Article e70013. https://doi.org/10.1002/jimd.70013

Buziau, A. M., Lefeber, D. J., Cassiman, D., Rubio-Gozalbo, M. E., Kwast, H., Tolan, D. R., Schalkwijk, C. G., & Brouwers, M. C. G. J. (2025). Aldolase B Deficient Mice Are Characterized by Hepatic Nucleotide Sugar Abnormalities. Journal of Inherited Metabolic Disease, 48(1), Article e12836. https://doi.org/10.1002/jimd.12836

Garrett, O. S., Druss, J. J., Vos, E. N., Fu, Y.-T. D., Lucia, S., Greenstein, P. E., Bauer, A., Sykut-Cegielska, J., Stepien, K. M., Arbuckle, C., Grafakou, O., Meyer, U., Vanhoutvin, N., Pane, A., Bosch, A. M., Rubio-Gozalbo, E., Berry, G. T., & Fridovich-Keil, J. L. (2025). Health and well-being of maturing adults with classic galactosemia. Journal of Inherited Metabolic Disease, 48(1), Article e12786. https://doi.org/10.1002/jimd.12786

Veldman, A., Sikkema-Raddatz, B., Derks, T. G. J., van Karnebeek, C. D. M., Kiewiet, M. B. G., Mulder, M. F., Nelen, M. R., Rubio-Gozalbo, M. E., Sinke, R. J., de Sain-van der Velden, M. G., Visser, G., de Vries, M. C., Westra, D., Williams, M., Wevers, R. A., Heiner-Fokkema, M. R., & van Spronsen, F. J. (2025). Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability. International Journal of Neonatal Screening, 11(1), Article 1. https://doi.org/10.3390/ijns11010001

Kingma, S. D. K., Steinbusch, L. K. M., Aukema, S. M., Sinnema, M., Panis, B., Nicolai, J., & Rubio-Gozalbo, E. (2024). D-glyceric aciduria due to GLYCTK mutation: Disease or non-disease? Molecular Genetics and Metabolism Reports, 41, Article 101159. https://doi.org/10.1016/j.ymgmr.2024.101159

Mazzini, S., Yadnik, S., Timmers, I., Rubio-Gozalbo, E., & Jansma, B. M. (2024). Altered neural oscillations in classical galactosaemia during sentence production. Journal of Inherited Metabolic Disease, 47(4), 690-702. https://doi.org/10.1002/jimd.12740

Derks, B., Kumar, V. S., Yadnik, S., Panis, B., Bosch, A. M., Cassiman, D., Janssen, M. C. H., Schuhmann, T., Rubio-Gozalbo, M. E., & Jansma, B. M. (2024). Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients. Journal of Inherited Metabolic Disease, 47(4), 703-715. https://doi.org/10.1002/jimd.12742

Panis, B., Vos, E. N., Baric, I., Bosch, A. M., Brouwers, M. C. G. J., Burlina, A., Cassiman, D., Coman, D. J., Couce, M. L., Das, A. M., Demirbas, D., Empain, A., Gautschi, M., Grafakou, O., Grunewald, S., Kingma, S. D. K., Knerr, I., Leão-Teles, E., Möslinger, D., ... Rubio-Gozalbo, M. E. (2024). Brain function in classic galactosemia, a galactosemia network (GalNet) members review. Frontiers in Genetics, 15, Article 1355962. https://doi.org/10.3389/fgene.2024.1355962

Quelhas, D., Kingma, S. D. K., Jonckheere, A. I., Smeets-Peels, C. S., Gomes, D. C., Duro, J., Oliveira, A., Matthijs, G., Steinbusch, L. K. M., Jaeken, J., Rivera, I., & Rubio-Gozalbo, E. (2024). Natural history of three late-diagnosed classic Galactosemia patients. Molecular Genetics and Metabolism Reports, 38, Article 101057. https://doi.org/10.1016/j.ymgmr.2024.101057

Crefcoeur, L., Ferdinandusse, S., van der Crabben, S. N., Dekkers, E., Fuchs, S. A., Huidekoper, H., Janssen, M., Langendonk, J., Maase, R., de Sain, M., Rubio, E., van Spronsen, F. J., Vaz, F. M., Verschoof, R., de Vries, M., Wijburg, F., Visser, G., & Langeveld, M. (2023). Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study. Journal of Medical Genetics, 60(12), 1177-1185. https://doi.org/10.1136/jmg-2023-109206