Amsterdam Gastroenterology Endocrinology Metabolism

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up

Welling, L., Bernstein, L. E., Berry, G. T., Burlina, A. B., Eyskens, F., Gautschi, M., Grünewald, S., Gubbels, C. S., Knerr, I., Labrune, P., van der Lee, J. H., MacDonald, A., Murphy, E., Portnoi, P. A., Õunap, K., Potter, N. L., Rubio-Gozalbo, M. E., Spencer, J. B., Timmers, I., Treacy, E. P., & 3 othersvan Calcar, S. C., Waisbren, S. E. & Bosch, A. M., 2017, In: Journal of Inherited Metabolic Disease. 40, 2, p. 171-176

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

Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes

Welling, L., Boelen, A., Derks, T. G. J., Schielen, P. C. J. I., de Vries, M., Williams, M., Wijburg, F. A. & Bosch, A. M., 2017, In: Molecular Genetics and Metabolism. 120, 3, p. 223-228

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

Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries

Bosch, A. M., Burlina, A., Cunningham, A., Bettiol, E., Moreau-Stucker, F., Koledova, E., Benmedjahed, K. & Regnault, A., 2015, In: Orphanet Journal of Rare Diseases. 10, 1, p. 80

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

The challenges of classical galactosemia: HRQoL in pediatric and adult patients

Hermans, M. E., van Oers, H. A., Geurtsen, G. J., Haverman, L., Hollak, C. E. M., Rubio-Gozalbo, M. E. & Bosch, A. M., Dec 2023, In: Orphanet Journal of Rare Diseases. 18, 1, p. 135 135.

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

Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism

Stolwijk, N. N., Bosch, A. M., Bouwhuis, N., Häberle, J., van Karnebeek, C., van Spronsen, F. J., Langeveld, M. & Hollak, C. E. M., Nov 2023, In: Journal of Inherited Metabolic Disease. 46, 6, p. 1017-1028 12 p.

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

Development of medicines for rare diseases and inborn errors of metabolism: Toward novel public–private partnerships

Rosenberg, N., Stolwijk, N. N., van den Berg, S., Heus, J. J., van der Wel, V., van Gelder, T., Bosch, A. M., de Visser, S. J. & Hollak, C. E. M., Sept 2023, In: Journal of Inherited Metabolic Disease. 46, 5, p. 806-816 11 p.

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