Metabolic diseases

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
Sabine Fuchs
Person: Full Professor
19982026

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)
From model to medicine: Personalized approaches to inborn errors of metabolism
Schene, I., 19 Mar 2026, Utrecht University. 336 p.
Research output: Thesis › Doctoral thesis 1 (Research UU / Graduation UU)

Open Access
File
20 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)

Dutch Liver Retreat 2026
Fuchs, S. (Invited speaker)
13 Feb 2026
Activity: Participating in or organising an event › Participation in conference › Academic
Symposium Innovative Therapies
Fuchs, S. (Chair)
12 Feb 2026
Activity: Participating in or organising an event › Participation in conference › Academic
Symposium Innovative Therapies
Fuchs, S. (Organiser)
12 Feb 2026
Activity: Participating in or organising an event › Participation in conference › Academic

Biotech Booster: HeLLO
Fuchs, S. (Recipient), 2024
Prize: Prize (including medals and awards)

File
Clarivate Highly Cited Researcher
Kooijmans, S. (Recipient), 2022
Prize: National/international honour
Clinical Fellow ZonMW
Fuchs, S. A. (Recipient), 2014
Prize: Prize (including medals and awards)

Beat Batten - onderzoeksupdate
van Hasselt, P.
7/11/25
1 Media contribution
Press/Media: Public Engagement Activities
JIMD Podcasts: ARS1 deficiencies
Hoytema van Konijnenburg, E. & Fuchs, S.
5/08/25
1 Media contribution
Press/Media: Public Engagement Activities
Begrijpen hoe de ziekte ontstaat is belangrijk, maar het liefst help ik patiënten weer aan toekomstperspectief!
van Hasselt, P.
26/06/25
1 Media contribution
Press/Media: Public Engagement Activities