PI
Specialization
Focus of research
metabolic disorders:
Phenylketonuria
Galactosemia
Riboflavin Transporter Deficiency
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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 others, 2017, In: Journal of inherited metabolic disease. 40, 2, p. 171-176Research output: Contribution to journal › Article › Academic › peer-review
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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. 223-228Research output: Contribution to journal › Article › Academic › peer-review
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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. 80Research output: Contribution to journal › Article › Academic › peer-review
- All publications
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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
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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
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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
- All publications