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

Riboflavin transporter deficiency in young adults unmasked by dietary changes

Jaeger, B., Langeveld, M., Brunkhorst, R., Distelmaier, F., Pop, A., Wolf, N. I. & Bosch, A. M., 1 Jul 2024, In: JIMD reports. 65, 4, p. 233-238 6 p.

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

Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients

Derks, B., Kumar, V. S., Yadnik, S., Panis, B., Bosch, A. M., Cassiman, D., Janssen, M. C. H., Schuhmann, T., Rubio-Gozalbo, M. E. & Jansma, B. M., Jul 2024, In: Journal of inherited metabolic disease. 47, 4, p. 703-715 13 p.

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

Neuropsychological stability in classical galactosemia: A pilot study in 10 adult patients

Hermans, M. E., Geurtsen, G. J., Hollak, C. E. M. & Bosch, A. M., 1 Mar 2024, In: JIMD reports. 65, 2, p. 110-115 6 p.

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