Metabolic diseases research 2

Jose Castro Alpizar, MSc
- Division of Pediatrics, Metabolic diseases research 2
- Regenerative Medicine and Stem Cells
Person: PHD Candidate - OIO
20252026
Kyra Fortuin
- Division of Pediatrics, Metabolic diseases research 2
Person: PHD Candidate - OIO
Eveline Ilcken
- Division of Pediatrics,
- Regenerative Medicine and Stem Cells
Person: PHD Candidate - OIO
20222025

32 Article
7 Review article
4 Doctoral thesis 1 (Research UU / Graduation UU)
1 Comment/Letter to the editor
More
- 1 Preprint

Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data
Schwantje, M., Maase, R. E., Dekkers, E., Ferdinandusse, S., Vaz, F. M., Hörster, F., Mütze, U., Grünert, S. C., Visser, G., Velden, M. G. M. D.S.-V. D. & Fuchs, S. A., Mar 2026, In: Journal of Inherited Metabolic Disease. 49, 2, e70143.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
File
1 Downloads (Pure)
Functional characterization of BAP1 mutations in genome edited cholangiocarcinoma organoids: Role in cell death and drug responses
Mi, W., Shi, S., Schene, I. F., Joore, I. P., Roest, H. P., Fuchs, S. A., van der Laan, L. J. W. & Verstegen, M. M. A., 20 Mar 2026, In: iScience. 29, 3, 114982.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
File
1 Downloads (Pure)
Navigating molecular therapies: The emerging role of mRNA in treating inherited metabolic diseases
Castro-Alpízar, J. A., Lenderink, M. J., Nieuwenhuis, E. E. S., Kooijmans, S. A. A. & Fuchs, S. A., Jan 2026, In: Molecular Genetics and Metabolism. 147, 1, 1 p., 109698.
Research output: Contribution to journal › Review article › peer-review

Open Access
File
8 Downloads (Pure)

Grant van Metakids voor ontwikkeling gentherapie
Fuchs, S. (Contributor) & van Breda Vriesman, S. (Contributor)
Nov 2025
Activity: Other › Types of Public engagement and outreach - Media article or participation
WS1: Longterm monitoring of fatty acid oxidation defects
Grünert, S. C. (Speaker), Fuchs, S. A. (Speaker) & Schwantje, M. (Speaker)
20 May 2022
Activity: Talk or presentation › Oral presentation › Academic

File
Cardiomyopathie bij VLCADD
Schwantje, M. (Speaker) & Fuchs, S. A. (Speaker)
18 Mar 2022
Activity: Talk or presentation › Oral presentation › Academic

File

Clarivate Highly Cited Researcher
Kooijmans, S. (Recipient), 2022
Prize: National/international honour
Metakids / UMD: Energising patients with inherited metabolic diseases
Langeveld, M. (Recipient), Fuchs, S. (Recipient), Saris, C. G. J. (Recipient), Schwantje, M. (Recipient) & El Sayed, M. (Recipient), 2020
Prize: Prize (including medals and awards)

File
Metakids / UMD: Improving hepatic engraftment by generating adult hepatocyte organoid cultures
Joore, I. (Recipient), Fuchs, S. (Recipient), Pijnappel, W. W. M. (Recipient), Smeets, B. (Recipient), Van Tienen, F. H. J. (Recipient) & Nieuwenhuis, E. (Recipient), 2020
Prize: Prize (including medals and awards)

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