Research output per year
Research output per year
Search results
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2024
D-glyceric aciduria due to GLYCTK mutation: Disease or non-disease?
Kingma, S. D. K., Steinbusch, L. K. M., Aukema, S. M., Sinnema, M., Panis, B., Nicolai, J. & Rubio-Gozalbo, E., 1 Dec 2024, In: Molecular Genetics and Metabolism Reports. 41, 3 p., 101159.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients
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., Jul 2024, In: Journal of Inherited Metabolic Disease. 47, 4, p. 703-715 13 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
2023
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening
Veldman, A., Kiewiet, M. B. G., Westra, D., Bosch, A. M., Brands, M. M. G., de Coo, R. I. F. M., Derks, T. G. J., Fuchs, S. A., van den Hout, J. M. P., Huidekoper, H. H., Kluijtmans, L. A. J., Koop, K., Lubout, C. M. A., Mulder, M. F., Panis, B., Rubio-Gozalbo, M. E., de Sain-van der Velden, M. G., Schaefers, J., Schreuder, A. B. & Visser, G. & 4 others, , Dec 2023, In: International Journal of Neonatal Screening. 9, 4, 20 p., 56.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Development of tools to facilitate the diagnosis of hereditary fructose intolerance
Panis, B., Janssen, L. E. F., Lefeber, D. J., Simons, N., Rubio-Gozalbo, M. E. & Brouwers, M. C. G. J., 27 Jul 2023, In: JIMD reports. 64, 5, p. 353-359 7 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access