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Dive into the research topics where Estela Rubio Gozalbo is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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A patient with a rare metabolic disease and myo-inositol administration leading to a new treatment for epilepsy
Berry, G. T., Vos, E. N., Demirbas, D., Brucker, W., Gilmartin, A., Lehtinen, M. K., Yang, E., Prabhu, S. P., Chen, J., Huang, X., Qi, W., Bennett, M. J., Haynes, R. L., Rodan, L., Poduri, A., Pearl, P. L., Rotenberg, A., He, M. & Rubio-Gozalbo, M. E., 1 Jun 2026, In: Molecular Genetics and Metabolism. 148, 2, 3 p., 109871.Research output: Contribution to journal › Editorial › Academic › peer-review
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Galactose tolerance in adults with classical galactosaemia. Considering the gaps
Shakerdi, L. A., Thacker, C. N., Moore, K., Sheerin, A., Noga, M., Rubio-Gozalbo, M. E., Berry, G. T., O'Byrne, J. J., Saldova, R. & Treacy, E. P., 1 Mar 2026, In: Molecular Genetics and Metabolism Reports. 46, 10 p., 101298.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Agreement between the Amsterdam Neuropsychological Tasks and the Cambridge Neuropsychological Test Automated Battery in theassessment of PKU patients and healthy controls
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., Jun 2025, In: Molecular Genetics and Metabolism. 145, 2, 12 p., 109126.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Aldolase B Deficient Mice Are Characterized by Hepatic Nucleotide Sugar Abnormalities
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., 1 Jan 2025, In: Journal of Inherited Metabolic Disease. 48, 1, 7 p., e12836.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
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
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., Sept 2025, In: Journal of Inherited Metabolic Disease. 48, 5, 17 p., e70088.Research output: Contribution to journal › Article › Academic › peer-review
Open Access