Projects per year
Fingerprint
Dive into the research topics where Genetic Metabolic Diseases is active. These topic labels come from the works of this organisation's members. Together they form a unique fingerprint.
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
Profiles
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ON TIME: ONderzoek TIjdige diagnose MEtabole ziekten
Vaz, F. (Principal investigator)
01/04/2024 → 01/04/2027
Project: Research
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CONTRACT: Chronological metabolic abnormalities in phospholamban cardiomyopathy
Vaz, F. (Principal investigator)
01/09/2021 → 01/09/2025
Project: Research
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Targeting the peroxisomal proteome for personalised medicine
Waterham, H. (Principal investigator)
01/06/2020 → …
Project: Research
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A Dutch translational knowledge agenda for inherited metabolic diseases
Waterham, H. R., Wanders, R. J. A., Wevers, R. A. & van Karnebeek, C. D., Jan 2025, In: Journal of inherited metabolic disease. 48, 1, e12812.Research output: Contribution to journal › Editorial › Academic › peer-review
Open AccessFile -
Altered lipid profile and reduced neuronal support in human induced pluripotent stem cell-derived astrocytes from adrenoleukodystrophy patients
Ferrer, R. M., Jaspers, Y. R. J., Dijkstra, I. M. E., Breeuwsma, N., van Klinken, J. B., Romero, C., Engelen, M., Kemp, S. & Heine, V. M., Jan 2025, In: Journal of inherited metabolic disease. 48, 1, e12832.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile -
Challenges in the identification and quantification of an unknown impurity in chenodeoxycholic acid drug substance
Bouwhuis, N., Polak, Y., Schimmel, A. M., Bijleveld, Y. A., Giera, M. A., Heijink, M., Vaz, F. M., Bootsma, A. H., Berg-Lammers, L. A. T., Swart, N. E. L., Hollak, C. E. M., Jacobs, B. A. W. & Kemper, E. M., 1 Feb 2025, In: European journal of pharmaceutical sciences. 205, p. 106979 106979.Research output: Contribution to journal › Article › Academic › peer-review
Open Access
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Nature communications (Journal)
Gao, A. (Reviewer)
2023Activity: Publication peer-review and editorial work › Publication peer-review
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Dutch Translational Metabolism Conference 2023
Gao, A. (Participant)
2022 → …Activity: Participating in or organising an event › Participation in conference › Academic
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ALD Alliance (External organisation)
Seeger, E. (Chair) & Kemp, S. (Member)
17 Jan 2021 → …Activity: Membership › Membership of board › Academic
Prizes
Press/Media
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Research Update from 2019 accelerators winner Arwen Gao, PhD
09/11/2023
1 Media contribution
Press/Media: Press / Media
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Deciphering Science's Secrets: Lifespan, UPR, and Lysosomal Pathways with Dr. Arwen Gao on The VitaDAO Aging Science Podcast
15/10/2023
1 Media contribution
Press/Media: Press / Media
Datasets
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Additional file 1: of Disease progression in women with X-linked adrenoleukodystrophy is slow
Huffnagel, I. C. (Creator), Dijkgraaf, M. G. W. (Creator), Janssens, G. E. (Creator), Van Weeghel, M. (Contributor), Van Geel, B. M. (Contributor), Poll-The, B. T. (Contributor), Kemp, S. (Creator) & Engelen, M. (Creator), Figshare, 2019
DOI: 10.6084/m9.figshare.7693295.v1, https://springernature.figshare.com/articles/Additional_file_1_of_Disease_progression_in_women_with_X-linked_adrenoleukodystrophy_is_slow/7693295/1
Dataset
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Additional file 1: of Disease progression in women with X-linked adrenoleukodystrophy is slow
Huffnagel, I. C. (Creator), Dijkgraaf, M. G. W. (Creator), Janssens, G. E. (Creator), Van Weeghel, M. (Contributor), Van Geel, B. M. (Contributor), Poll-The, B. T. (Contributor), Kemp, S. (Creator) & Engelen, M. (Creator), Figshare, 2019
DOI: 10.6084/m9.figshare.7693295, https://springernature.figshare.com/articles/Additional_file_1_of_Disease_progression_in_women_with_X-linked_adrenoleukodystrophy_is_slow/7693295
Dataset
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Additional file 2: of Disease progression in women with X-linked adrenoleukodystrophy is slow
Huffnagel, I. C. (Creator), Dijkgraaf, M. G. W. (Creator), Janssens, G. E. (Creator), Van Weeghel, M. (Contributor), Van Geel, B. M. (Contributor), Poll-The, B. T. (Contributor), Kemp, S. (Creator) & Engelen, M. (Creator), Figshare, 2019
DOI: 10.6084/m9.figshare.7693298, https://springernature.figshare.com/articles/Additional_file_2_of_Disease_progression_in_women_with_X-linked_adrenoleukodystrophy_is_slow/7693298
Dataset