M.E. Rubio Gozalbo

Aukes, R., Albersen, M., Boelen, A., Kluijtmans, L. A. J., Visser, W. F., de Vries, M. C., Bosch, A. M., C5-OH NBS Working Group, Keularts, I., Panis, B., & Gozalbo, E. R. (2025). Evaluation of Newborn Screening for Diseases Using C5-OH as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of C5-OH Screening in the Netherlands. Journal of Inherited Metabolic Disease, 48(5), Article e70088. https://doi.org/10.1002/jimd.70088

Naomi Vos, E., Demirbas, D., Rodan, L., Yang, E., Prabhu, S. P., Chen, J., Huang, X., Haynes, R. L., Lehtinen, M. K., Bennett, M. J., He, M., Pearl, P. L., Rubio-Gozalbo, M. E., Poduri, A., & Berry, G. T. (2025). The use of synaptic extracellular myo-inositol to treat Developmental and Epileptic Encephalopathy. Annals of the Child Neurology Society, 3(3), 201-207. https://doi.org/10.1002/cns3.70029

van Steenis, E. M., Huijbregts, S. C. J., Romani, C., Schoemaker, J. A., van Vliet, N., Kuypers, A. M., Rubio-Gozalbo, M. E., Rennings, A. J. M., de Vries, M., Heiner-Fokkema, M. R., & van Spronsen, F. J. (2025). Agreement between the Amsterdam Neuropsychological Tasks and the Cambridge Neuropsychological Test Automated Battery in theassessment of PKU patients and healthy controls. Molecular Genetics and Metabolism, 145(2), Article 109126. https://doi.org/10.1016/j.ymgme.2025.109126

Simpson, K., MacLeod, E. L., Clayton, J., Yazigi, N. A., Rubio-Gozalbo, M. E., Fridovich-Keil, J. L., Berry, G. T., & Ah Mew, N. (2025). Orthotopic Liver Transplantation in a Patient With GALTp.Ser135Leu/Null. JIMD reports, 66(3), Article e70016. https://doi.org/10.1002/jmd2.70016

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