Personal profile
Research interests
metabolic disorders:
Phenylketonuria
Galactosemia
Riboflavin Transporter Deficiency
External positions
Member of the Board, College ter Beoordeling van Geneesmiddelen, Netherlands
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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SDG 3 Good Health and Well-being
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Collaborations and top research areas from the last five years
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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
Open AccessFile19 Downloads (Pure) -
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
Open AccessFile22 Downloads (Pure) -
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives
Bosch, A. M., Stroek, K., Abeling, N. G., Waterham, H. R., Ijlst, L. & Wanders, R. J. A., 2012, In: Orphanet journal of rare diseases. 7, 1, p. 83Research output: Contribution to journal › Review article › Academic › peer-review
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"MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial
ten Hoedt, A. E., Hollak, C. E. M., Boelen, C. C. A., van der Herberg-van de Wetering, N. A. P., ter Horst, N. M., Jonkers, C. F., Wijburg, F. A. & Bosch, A. M., 2011, In: Orphanet journal of rare diseases. 6, 1, p. 48Research output: Contribution to journal › Article › Academic › peer-review
Datasets
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Supplementary Material for: Improving the Dutch Newborn Screening for Central Congenital Hypothyroidism by Using 95% Reference Intervals for Thyroxine-Binding Globulin
Stroek, K. (Creator), Heijboer, A. C. (Creator), Bosch, A. M. (Creator), Zwaveling-Soonawala, N. (Creator) & Boelen, A. (Creator), Karger Publishers, 2021
DOI: 10.6084/m9.figshare.14169713, https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Improving_the_Dutch_Newborn_Screening_for_Central_Congenital_Hypothyroidism_by_Using_95_Reference_Intervals_for_Thyroxine-Binding_Globulin/14169713
Dataset
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Supplementary Material for: Improving the Dutch Newborn Screening for Central Congenital Hypothyroidism by Using 95% Reference Intervals for Thyroxine-Binding Globulin
Stroek, K. (Creator), Heijboer, A. C. (Creator), Bosch, A. M. (Creator), Zwaveling-Soonawala, N. (Creator) & Boelen, A. (Creator), Karger Publishers, 2021
DOI: 10.6084/m9.figshare.14169713.v1, https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Improving_the_Dutch_Newborn_Screening_for_Central_Congenital_Hypothyroidism_by_Using_95_Reference_Intervals_for_Thyroxine-Binding_Globulin/14169713/1
Dataset