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Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1
van Vliet, K., Dijkstra, A. M., Bouva, M. J., van der Krogt, J., Bijsterveld, K., van der Sluijs, F., de Sain-van der Velden, M. G., Koop, K., Rossi, A., Thomas, J. A., Patera, C. A., Kiewiet, M. B. G., Waters, P. J., Cyr, D., Boelen, A., van Spronsen, F. J. & Heiner-Fokkema, M. R., Nov 2023, In: Journal of inherited metabolic disease. 46, 6, p. 1104-1113 10 p.Research output: Contribution to journal › Article › Academic › peer-review
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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
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Optimization of performance of Dutch newborn screening for cystic fibrosis
Bouva, M. J., Dankert-Roelse, J. E., van der Ploeg, C. P. B., Verschoof-Puite, R. K., Zomer-van Ommen, D. D., Gille, J. J. P., Jakobs, B. S., Heijnen, M. L. A. & de Winter-de Groot, K. M., 2023, (E-pub ahead of print) In: Journal of cystic fibrosis.Research output: Contribution to journal › Article › Academic › peer-review
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