PI
Specialization
Focus of research
metabolic disorders:
Phenylketonuria
Galactosemia
Riboflavin Transporter Deficiency
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European guidelines on diagnosis and treatment of phenylketonuria: First revision
van Wegberg, A. M. J., MacDonald, A., Ahring, K., Bélanger-Quintana, A., Beblo, S., Blau, N., Bosch, A. M., Burlina, A., Campistol, J., Coşkun, T., Feillet, F., Giżewska, M., Huijbregts, S. C., Leuzzi, V., Maillot, F., Muntau, A. C., Rocha, J. C., Romani, C., Trefz, F. & van Spronsen, F. J., 1 Jun 2025, In: Molecular genetics and metabolism. 145, 2, 109125.Research output: Contribution to journal › Review article* › Academic › peer-review
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Evaluation of the Performance of Newborn Screening for Tyrosinemia Type 1 in The Netherlands: Suggestions for Improvements Using Additional Biomarkers in Addition to Succinylacetone
Bouva, M. J., Kuypers, A. M., Kemper, E. A., Maase, R. E., Bosch, A. M., van Spronsen, F. J., Heijboer, A. C., Heiner-Fokkema, M. R., Heil, S. G. & Boelen, A., 1 Jun 2025, In: International Journal of Neonatal Screening. 11, 2, 35.Research output: Contribution to journal › Article* › Academic › peer-review
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Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals
Stolwijk, N. N., Häberle, J., Huidekoper, H. H., Wagenmakers, M. A. E. M., Hollak, C. E. M., Bosch, A. M. & the E-IMD and MetabERN Working Group on the Real-World Use of products for UCD Management, 1 Jan 2025, In: Journal of inherited metabolic disease. 48, 1, e12815.Research output: Contribution to journal › Article* › Academic › peer-review
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