Marelle J. Bouva

Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns

Vaz, F. M., Jamal, Y., Barto, R., Gelb, M. H., DeBarber, A. E., Wevers, R. A., Nelen, M. R., Verrips, A., Bootsma, A. H., Bouva, M. J., Kleise, N., van der Zee, W., He, T., Salomons, G. S. & Huidekoper, H. H., 15 Jan 2023, In: Clinica chimica acta. 539, p. 170-174 5 p.

Research output: Contribution to journal › Article › Academic › peer-review

Second-tier Testing for 21-Hydroxylase Deficiency in the Netherlands: A Newborn Screening Pilot Study

Stroek, K., Ruiter, A., van der Linde, A., Ackermans, M., Bouva, M. J., Engel, H., Jakobs, B., Kemper, E. A., van den Akker, E. L. T., van Albada, M. E., Bocca, G., Finken, M. J. J., Hannema, S. E., Mieke Houdijk, E. C. A., van der Kamp, H. J., van Tellingen, V., Paul van Trotsenburg, A. S., Zwaveling-Soonawala, N., Bosch, A. M., de Jonge, R., & 3 othersHeijboer, A. C., Claahsen-van der Grinten, H. L. & Boelen, A., 1 Nov 2021, In: Journal of Clinical Endocrinology and Metabolism. 106, 11, p. E4487-E4496

Research output: Contribution to journal › Article › Academic › peer-review

Corrigendum: Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor (Frontiers in Cell and Developmental Biology, (2020), 8, (499), 10.3389/fcell.2020.00499)

Barendsen, R. W., Dijkstra, I. M. E., Visser, W. F., Alders, M., Bliek, J., Boelen, A., Bouva, M. J., van der Crabben, S. N., Elsinghorst, E., van Gorp, A. G. M., Heijboer, A. C., Jansen, M., Jaspers, Y. R. J., van Lenthe, H., Metgod, I., Mooij, C. F., van der Sluijs, E. H. C., van Trotsenburg, A. S. P., Verschoof-Puite, R. K., Vaz, F. M., & 5 othersWaterham, H. R., Wijburg, F. A., Engelen, M., Dekkers, E. & Kemp, S., 28 Jan 2021, In: Frontiers in cell and developmental biology. 9, 631655.

Research output: Contribution to journal › Comment/Letter to the editor › Academic