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Comment on Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9, 66
Bouva, M. J., Maase, R. E. & van Elburg, R. M., 1 Dec 2024, In: International journal of neonatal screening. 10, 4, 65.Research output: Contribution to journal › Comment/Letter to the editor* › Academic
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Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide
Kuypers, A. M., Bouva, M. J., Loeber, J. G., Boelen, A., Dekkers, E., Petritis, K., Pickens, C. A., van Spronsen, F. J. & The ISNS Representatives, 1 Dec 2024, In: International journal of neonatal screening. 10, 4, 82.Research output: Contribution to journal › Article* › Academic › peer-review
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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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