Projects per year
Personal profile
Research interests
metabolic disorders:
Phenylketonuria
Galactosemia
Riboflavin Transporter Deficiency
External positions
Member of the Board, College ter Beoordeling van Geneesmiddelen, Netherlands
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Dive into the research topics where Annet Bosch is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Silence Therap.: Reverse Cascade Screening for Elevated LP(a) in 4,000 Children: from Pedigrees to Cardiovascular Risk
Bosch, A. (Principal investigator) & Corpeleijn, W. (Project Leader)
15/11/2023 → 31/08/2025
Project: Research
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FH-patiënt onderzoek: FH-patiënt onderzoek
Bosch, A. (Principal investigator), Corpeleijn, W. (Project Leader) & Wiegman, A. (Project Member)
Stichting Amsterdams Universiteitsfonds
01/09/2023 → 30/09/2025
Project: Research
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RIVM 3-MCCD: 3-Methylcrotonyl-CoA carboxylase deficiëntie x, een aandoening waarop wordt gescreend in de neonatale hielprikscreening
Bosch, A. (Principal investigator)
RIVM: Rijksinstituut voor Volksgezondheid en Milieu
01/07/2023 → 30/06/2027
Project: Research
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NPC IntraBio: Effects of N-Acetyl-L-Leucine on Niemann-Pick disease type C (NPC): A Phase III, randomized, placebo-controlled, double-blind, crossover study
Bosch, A. (Principal investigator) & Brands, M. (Project Leader)
11/01/2022 → 31/05/2028
Project: Research
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MARS 110-504 Registry: Morquio A Registry Study (MARS)
Bosch, A. (Principal investigator) & Brands, M. (Project Leader)
BIOMARIN Int. Ltd, c/o ICON Clinical Research Ireland Ltd
16/06/2015 → 31/12/2025
Project: Research
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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 Access -
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
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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.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
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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