Research output per year
Research output per year
Research output
- 21 results
Search results
-
2025
Isoleucine-to-valine substitutions support cellular physiology during isoleucine deprivation
Kok, G., Schene, I. F., Ilcken, E. F., Alcaraz, P. S., Mendes, M. I., Smith, D. E. C., Salomons, G., Shehata, S., Jans, J. J. M., Maroofian, R., Hoek, T. A., van Es, R. M., Rehmann, H., Nieuwenhuis, E. E. S., Vos, H. R. & Fuchs, S. A., 13 Jan 2025, In: Nucleic acids research. 53, 1, gkae1184.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile -
2024
Enrichment of cell cycle pathways in progesterone-treated endometrial organoids of infertile women compared to fertile women
Bui, B. N., Ardisasmita, A. I., van de Vliert, F. H., Abendroth, M. S., van Hoesel, M., Mackens, S., Fuchs, S. A., Nieuwenhuis, E. E. S., Broekmans, F. J. M. & Steba, G. S., Sept 2024, In: Journal of Assisted Reproduction and Genetics. 41, 9, p. 2405-2418 14 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile -
EV-Elute: A universal platform for the enrichment of functional surface marker-defined extracellular vesicle subpopulations
de Voogt, W. S., Frunt, R., Leandro, R. M., Triesscheijn, C. S., Monica, B., Paspali, I., Tielemans, M., François, J. J. J. M., Seinen, C. W., de Jong, O. G. & Kooijmans, S. A. A., Dec 2024, In: Journal of Extracellular Vesicles. 13, 12, e70017.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile -
Long-term monitoring of fatty acid oxidation defects: results from a MetabERN survey
Schwantje, M., Grünert, S. C. & Fuchs, S. A., 20 Jan 2024, In: Orphanet Journal of Rare Diseases. 19, 1, 21.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile3 Downloads (Pure) -
Misidentification of neural cell identity in liver-derived organoid systems
Schene, I. F., Ardisasmita, A. I. & Fuchs, S. A., 12 Mar 2024, In: Stem Cell Reports. 19, 3, p. 315-316 2 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile5 Downloads (Pure) -
Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders
Schwantje, M., Mosegaard, S., Knottnerus, S. J. G., van Klinken, J. B., Wanders, R. J., van Lenthe, H., Hermans, J., IJlst, L., Denis, S. W., Jaspers, Y. R. J., Fuchs, S. A., Houtkooper, R. H., Ferdinandusse, S. & Vaz, F. M., 29 Feb 2024, In: FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 38, 4, e23478.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Downloads (Pure) -
2023
Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration
Muffels, I. J. J., Schene, I. F., Rehmann, H., Massink, M. P. G., van der Wal, M. M., Bauder, C., Labeur, M., Armando, N. G., Lequin, M. H., Houben, M. L., Giltay, J. C., Haitjema, S., Huisman, A., Vansenne, F., Bluvstein, J., Pappas, J., Shailee, L. V., Zarate, Y. A., Mokry, M. & van Haaften, G. W. & 5 others, , 5 Jan 2023, In: American Journal of Human Genetics. 110, 1, p. 146-160 15 p.Research output: Contribution to journal › Article › Academic › peer-review
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The Effect of Genetic HLA Matching on Liver Transplantation Outcome: A Systematic Review and Meta-Analysis
Kok, G., Ilcken, E. F., Houwen, R. H. J., Lindemans, C. A., Nieuwenhuis, E. E. S., Spierings, E. & Fuchs, S. A., Sept 2023, In: Annals of surgery open : perspectives of surgical history, education, and clinical approaches. 4, 3, p. 1-7 e334.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile13 Downloads (Pure) -
2022
A comprehensive transcriptomic comparison of hepatocyte model systems improves selection of models for experimental use
Ardisasmita, A. I., Schene, I. F., Joore, I. P., Kok, G., Hendriks, D., Artegiani, B., Mokry, M., Nieuwenhuis, E. E. S. & Fuchs, S. A., 14 Oct 2022, In: Communications biology. 5, 1, 1094.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile9 Downloads (Pure) -
Assessment of human leukocyte antigen matching algorithm PIRCHE-II on liver transplantation outcomes
Kok, G., Verstegen, M. M., Houwen, R. H., Nieuwenhuis, E. E., Metselaar, H. J., Polak, W. G., van der Laan, L. J., Spierings, E., den Hoed, C. M. & Fuchs, S. A., Aug 2022, In: Liver Transplantation. 28, 8, p. 1356-1366 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile5 Downloads (Pure) -
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands
Schwantje, M., Fuchs, S. A., de Boer, L., Bosch, A. M., Cuppen, I., Dekkers, E., Derks, T. G. J., Ferdinandusse, S., Ijlst, L., Houtkooper, R. H., Maase, R., van der Pol, W. L., de Vries, M. C., Verschoof-Puite, R. K., Wanders, R. J. A., Williams, M., Wijburg, F. & Visser, G., Jul 2022, In: Journal of Inherited Metabolic Disease. 45, 4, p. 804-818 15 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Citations (Scopus)6 Downloads (Pure) -
Mutation-specific reporter for optimization and enrichment of prime editing
Schene, I. F., Joore, I. P., Baijens, J. H. L., Stevelink, R., Kok, G., Shehata, S., Ilcken, E. F., Nieuwenhuis, E. E. S., Bolhuis, D. P., van Rees, R. C. M., Spelier, S. A., van der Doef, H. P. J., Beekman, J. M., Houwen, R. H. J., Nieuwenhuis, E. E. S. & Fuchs, S. A., 1 Mar 2022, In: Nature Communications. 13, 1, 1028.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile47 Downloads (Pure) -
Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography
Veenvliet, A. R. J., Garrelfs, M. R., Udink Ten Cate, F. E. A., Ferdinandusse, S., Denis, S., Fuchs, S. A., Schwantje, M., Geurtzen, R., van Wegberg, A. M. J., Huigen, M. C. D. G., Kluijtmans, L. A. J., Wanders, R. J. A., Derks, T. G. J., de Boer, L., Houtkooper, R. H., de Vries, M. C. & van Karnebeek, C. D. M., Jun 2022, In: Molecular Genetics and Metabolism Reports. 31, 100873.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile7 Downloads (Pure) -
The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism
Lehmann, V., Schene, I. F., Ardisasmita, A. I., Liv, N., Veenendaal, T., Klumperman, J., van der Doef, H. P. J., Verkade, H. J., Verstegen, M. M. A., van der Laan, L. J. W., Jans, J. J. M., Verhoeven-Duif, N. M., van Hasselt, P. M., Nieuwenhuis, E. E. S., Spee, B. & Fuchs, S. A., Mar 2022, In: Journal of Inherited Metabolic Disease. 45, 2, p. 353-365 13 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile6 Downloads (Pure) -
Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy
Schwantje, M., Ebberink, M. S., Doolaard, M., Ruiter, J. P. N., Fuchs, S. A., Darin, N., Hedberg-Oldfors, C., Régal, L., Donker Kaat, L., Huidekoper, H. H., Olpin, S., Cole, D., Moat, S. J., Visser, G. & Ferdinandusse, S., Jul 2022, In: Journal of Inherited Metabolic Disease. 45, 4, p. 819-831 13 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile -
2021
A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net
Sept 2021, In: Journal of Inherited Metabolic Disease. 44, 5, p. 1124-1135 12 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Citations (Scopus)9 Downloads (Pure) -
Bioprinting of Human Liver-Derived Epithelial Organoids for Toxicity Studies
Bouwmeester, M. C., Bernal, P. N., Oosterhoff, L. A., van Wolferen, M. E., Lehmann, V., Vermaas, M., Buchholz, M. B., Peiffer, Q. C., Malda, J., van der Laan, L. J. W., Kramer, N. I., Schneeberger, K., Levato, R. & Spee, B., Dec 2021, In: Macromolecular Bioscience. 21, 12, p. 1-10 2100327.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile22 Downloads (Pure) -
Treatment of ARS deficiencies with specific amino acids
Kok, G., Tseng, L., Schene, I. F., Dijsselhof, M. E., Salomons, G., Mendes, M. I., Smith, D. E. C., Wiedemann, A., Canton, M., Feillet, F., de Koning, T. J., Boothe, M., Dean, J., Kassel, R., Ferreira, E. A., van den Born, M., Nieuwenhuis, E. E. S., Rehmann, H., Terheggen-Lagro, S. W. J. & van Karnebeek, C. D. M. & 1 others, , Nov 2021, In: Genetics in Medicine. 23, 11, p. 2202-2207 6 p.Research output: Contribution to journal › Article › Academic › peer-review
3 Citations (Scopus) -
2020
Human extrahepatic and intrahepatic cholangiocyte organoids show region-specific differentiation potential and model cystic fibrosis-related bile duct disease
Verstegen, M. M. A., Roos, F. J. M., Burka, K., Gehart, H., Jager, M., de Wolf, M., Bijvelds, M. J. C., de Jonge, H. R., Ardisasmita, A. I., van Huizen, N. A., Roest, H. P., de Jonge, J., Koch, M., Pampaloni, F., Fuchs, S. A., Schene, I. F., Luider, T. M., van der Doef, H. P. J., Bodewes, F. A. J. A. & de Kleine, R. H. J. & 6 others, , 14 Dec 2020, In: Scientific Reports. 10, 1, p. 1-16 16 p., 21900.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile25 Downloads (Pure) -
Misdiagnosis of CTX due to propofol: the interference of total intravenous propofol anaesthesia with bile acid profiling
Claesen, J. L., Koomen, E., Schene, I. F., Jans, J. J., Mast, N., Pikuleva, I. A., van der Ham, M., de Sain-van der Velden, M. G. & Fuchs, S. A., Jul 2020, In: Journal of Inherited Metabolic Disease. 43, 4, p. 843-851 9 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Downloads (Pure) -
Prime editing for functional repair in patient-derived disease models
Schene, I. F., Joore, I. P., Oka, R., Mokry, M., van Vugt, A. H. M., van Boxtel, R., van der Doef, H. P. J., van der Laan, L. J. W., Verstegen, M. M. A., van Hasselt, P. M., Nieuwenhuis, E. E. S. & Fuchs, S. A., 1 Dec 2020, In: Nature Communications. 11, 1, 5352.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile16 Downloads (Pure)