A.M.J. van Wegberg, MSc

Faculteit Medische Wetenschappen/UMCG

Telefoon:

E-mail:

a.m.j.van.wegberg umcg.nl

ORCID Research Portal

Publicaties

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., jun.-2025, In: Molecular Genetics and Metabolism. 145, 2, 41 blz., 109125.

Onderzoeksoutput › peer review

From the first to the second European guidelines for diagnosis and treatment of phenylketonuria: building evidence for future recommendations

van Wegberg, A., 2025, [Groningen]: University of Groningen. 230 blz.

Onderzoeksoutput

Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes

Ilgaz, F., Höller, A., Marsaux, C., Banta-Wright, S., Coşkun, T., Dingess, K. A., Jörg-Streller, M., Newby, C., Singh, R., Stahl, B., Szwec, C., van Wegberg, A., Woestenenk, W., MacDonald, A. & Karall, D., mrt.-2025, In: Journal of Inherited Metabolic Disease. 48, 2, 23 blz., e70001.

Onderzoeksoutput › peer review

Meta-analysis of cognitive outcomes in children and adults with early treated phenylketonuria – Results across functions

Romani, C., Huijbregts, S., van Spronsen, F. J., MacDonald, A., van Wegberg, A. M. J., Staines, M. & Olson, A., 1-sep.-2025, In: Molecular Genetics and Metabolism. 146, 1-2, 13 blz., 109210.

Onderzoeksoutput › peer review

The influence of professionals’ personal views and values in the development of guidelines for rare diseases: an example from phenylketonuria

van Wegberg, A. M. J., Romani, C. & van Spronsen, F. J., dec.-2025, In: Orphanet journal of rare diseases. 20, 1, 9 blz., 571.

Onderzoeksoutput › › peer review

The relationship between adult phenylketonuria and the cardiovascular system - insights into mechanisms and risks

Dos Santos, Y., Trefz, F., Giżewska, M., van Wegberg, A. M. J., Lefort, B., Labarthe, F., van Spronsen, F. & Maillot, F., 2-apr.-2025, In: Orphanet journal of rare diseases. 20, 1, 12 blz., 156.

Onderzoeksoutput › peer review

Impact of Phenylketonuria on the Serum Metabolome and Plasma Lipidome: A Study in Early-Treated Patients

Weerd, J. C. V. D., Wegberg, A. M. J. V., Boer, T. S., Engelke, U. F. H., Coene, K. L. M., Wevers, R. A., Bakker, S. J. L., Blaauw, P. D., Groen, J., Spronsen, F. J. V. & Heiner-Fokkema, M. R., sep.-2024, In: Metabolites. 14, 9, 25 blz., 479.

Onderzoeksoutput › › peer review

The clinical relevance of novel biomarkers as outcome parameter in adults with phenylketonuria

van Wegberg, A. M. J., Engelke, U. F. H., Coene, K. L. M., Jahja, R., Bakker, S. J. L., Huijbregts, S. C. J., Wevers, R. A., Heiner-Fokkema, M. R. & van Spronsen, F. J., jul.-2024, In: Journal of Inherited Metabolic Disease. 47, 4, blz. 624-635 12 blz.

Onderzoeksoutput › › peer review

Association between Lysine Reduction Therapies and Cognitive Outcomes in Patients with Pyridoxine-Dependent Epilepsy

Coughlin, C. R., Tseng, L. A., Bok, L. A., Hartmann, H., Footitt, E., Striano, P., Tabarki, B. M., Lunsing, R. J., Stockler-Ipsiroglu, S., Gordon, S., Van Hove, J. L. K., Abdenur, J. E., Boyer, M., Longo, N., Andrews, A., Janssen, M. C. H., van Wegberg, A., Prasad, C., Prasad, A. N. & Lamb, M. M., Wijburg, F. A., Gospe, S. M. & Van Karnebeek, C., 6-dec.-2022, In: Neurology. 99, 23, blz. E2627-E2636 11 blz.

Onderzoeksoutput › › peer review