1. Does the 48-hour BH4 loading test miss responsive PKU patients?

   van Wegberg, A. M. J., Evers, R. A. F., van Dam, E., de Vries, M. C., Janssen, M. C. H., Heiner-Fokkema, M. R. & van Spronsen, F. J., Mar-2020, In : Molecular Genetics and Metabolism. 129, 3, p. 186-192 7 p.

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

2. The first European guidelines on phenylketonuria: its usefulness and implications for BH4 responsiveness testing

   Evers, R. A. F., van Wegberg, A. M. J., Anjema, K., Lubout, C. M. A., van Dam, E., van Vliet, D., Blau, N. & van Spronsen, F. J., 10-Sep-2019, In : Journal of Inherited Metabolic Disease. 43, 2, p. 244-250 20 p.

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

3. Early feeding practices in infants with phenylketonuria across Europe

   Pinto, A., Adams, S., Ahring, K., Allen, H., Almeida, M. F., Garcia-Arenas, D., Arslan, N., Assoun, M., Altinok, Y. A., Barrio-Carreras, D., Belanger Quintana, A., Bernabei, S. M., Bontemps, C., Boyle, F., Bruni, G., Bueno-Delgado, M., Caine, G., Carvalho, R., Chrobot, A., Chyz, K., Cochrane, B., Correia, C., Corthouts, K., Daly, A., De Leo, S., Desloovere, A., De Meyer, A., De Theux, A., Didycz, B., Dijsselhof, M. E., Dokoupil, K., Drabik, J., Dunlop, C., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, A., Fokkema, L., Francois, L., French, M., Forssell, E., Kok, I. L., Robert, M., van Dam, E., van den Hurk, T. A. M., van der Ploeg, E. M. C., van Wegberg, A. M. J. & MacDonald, A., Sep-2018, In : Molecular genetics and metabolism reports. 16, p. 82-89 8 p.

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

4. The complete European guidelines on phenylketonuria: Diagnosis and treatment

   van Wegberg, A. M. J., MacDonald, A., Ahring, K., Belanger-Quintana, A., Blau, N., Bosch, A. M., Burlina, A., Campistol, J., Feillet, F., Gizewska, M., Huijbregts, S. C., Kearney, S., Leuzzi, V., Maillot, F., Muntau, A. C., van Rijn, M., Trefz, F., Walter, J. H. & van Spronsen, F. J., 12-Oct-2017, In : Orphanet journal of rare diseases. 12, 56 p., 162.

   Research output: Contribution to journal › Review article › Academic › peer-review

5. Issues with European guidelines for phenylketonuria - Author's reply

   van Spronsen, F. J., van Wegberg, A. M. J., Ahring, K., Belanger-Quintana, A., Blau, N., Bosch, A. M., Burlina, A., Campistol, J., Feillet, F., Gizewska, M., Huijbregts, S. C., Kearney, S., Leuzzi, V., Maillot, F., Muntau, A. C., Trefz, F. K., van Rijn, M. & MacDonald, A., Sep-2017, In : Lancet Diabetes & Endocrinology. 5, 9, p. 683-684 2 p.

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

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