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Sabine A. Fuchs

wilhelmina childrens hospital university medical centre

28H-index
102Paper Count
5.1KCitation Count
Published Papers 54
Publication Date
Mitochondrial aminoacyl-tRNA synthetase (ARS)-defects: a review of phenotypes and therapeutic strategies in 899 patients
err2026-05-21
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errEva M.M. Hoytema van Konijnenburg; Jingjing Ying; Gajja S. Salomons; Saskia B. Wortmann; Irena J.J. Muffels; Sabine A. Fuchs
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Automated and scalable expansion of human liver organoids for translational applications
err2026-04-24
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errMarjolein J.M. ten Dam; Juda-El S. Jno Baptiste - Sam; Rachelle S. Schwanen; Lisa van Uden; Monique M.A. Verstegen; Luc J.W. van der Laan; Sabine A. Fuchs; Ruud Das; Bart Spee
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Aminoacyl-tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic Strategies
err2026-04-24
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errM. I. Mendes; D. E. Smith; V. Spek; A. M. Bosch; W. E. Corpeleijn; M. Engelen; S. A. Fuchs; A. Hadchouel; I. U. Heinemann; R. H. Houtkooper; E. M. M. Hoytema van Konijnenburg; S. Kemp; M. Langeveld; C. D. M. Karnebeek; A. Pop; V. M. Siu; N. I. Wolf; G. S. Salomons
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Navigating molecular therapies: The emerging role of mRNA in treating inherited metabolic diseases
err2025-12-03
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PREAI
errJ.A. Castro-Alpízar; M.J. Lenderink; E.E.S. Nieuwenhuis; S.A.A. Kooijmans; S.A. Fuchs
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The Genotypic and Phenotypic Spectrum of GOSR2 Mutations: Clinical and Pathophysiological Insights
err2025-11-20
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errPolet, Sjoukje S.; Siegal, Elisabeth Z.; Fuchs, Sabine A.; Tijssen, Marina A. J.; de Koning, Tom J.
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Myopathic Symptoms and Exercise Tolerance in Adolescent Patients With Long-Chain Fatty Acid Oxidation Disorders
err2025-07-29
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errMarit Schwantje; Marco van Brussel; Tim Takken; Monique G. M. de Sain-van der Velden; Mirjam Langeveld; Gepke Visser; Sabine A. Fuchs
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Setting the Stage for Treatment of Aminoacyl-tRNA Synthetase (ARS)1-Deficiencies: Phenotypic Characterization and a Review of Treatment Effects
err2025-03-05
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errvan Konijnenburg, Eva M. M. Hoytema; Rohof, Joline; Kok, Gautam; van Hasselt, Peter M.; van Karnebeek, Clara D.; Muffels, Irena J. J.; Fuchs, Sabine A.
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Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance
err2025-02-07
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errMuffels, Irena Josephina Johanna; Waterham, Hans R.; D'Alessandro, Giuseppina; Zagnoli-Vieira, Guido; Sacher, Michael; Lefeber, Dirk J.; van der Vinne, Celine; Roifman, Chaim M.; Gassen, Koen L. I.; Rehmann, Holger; Van Haaften-Visser, Desiree Y.; Nieuwenhuis, Edward S. S.; Jackson, Stephen P.; Fuchs, Sabine A.; Wijk, Femke; van Hasselt, Peter
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Imaging flow cytometry reveals divergent mitochondrial phenotypes in mitochondrial disease patients
err2025-01-01
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errMuffels, Irena. J. J.; Rodenburg, Richard; Willemen, Hanneke L. D.; van Haaften-Visser, Desiree; Waterham, Hans; Eijkelkamp, Niels; Fuchs, Sabine A.
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Isoleucine-to-valine substitutions support cellular physiology during isoleucine deprivation
err2024-12-09
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errKok, Gautam; Schene, Imre F.; Ilcken, Eveline F.; Alcaraz, Paula Sobrevals; Mendes, Marisa, I; Smith, Desiree E. C.; Salomons, Gajja; Shehata, Sawsan; Jans, Judith J. M.; Maroofian, Reza; Hoek, Tim A.; van Es, Robert M.; Rehmann, Holger; Nieuwenhuis, Edward E. S.; Vos, Harmjan R.; Fuchs, Sabine A.
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Large-scale genomic investigation of pediatric cholestasis reveals a novel hepatorenal ciliopathy caused by PSKH1 mutations
err2024-11-01
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PREAI
errMaddirevula, Sateesh; Shagrani, Mohammad; Ji, Ae-Ri; Horne, Christopher R.; Young, Samuel N.; Mather, Lucy J.; Alqahtani, Mashael; McKerlie, Colin; Wood, Geoffrey; Potter, Paul K.; Abdulwahab, Firdous; AlSheddi, Tarfa; van der Woerd, Wendy L.; van Gassen, Koen L. I.; Albogami, Dalal; Kumar, Kishwer; Akhtar, Ali Syed Muhammad; Binomar, Hiba; Almanea, Hadeel; Faqeih, Eissa; Fuchs, Sabine A.; Scott, John W.; Murphy, James M.; Alkuraya, Fowzan S.
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Accelerated production of human epithelial organoids in a miniaturized spinning bioreactor
err2024-11-01
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errYe, Shicheng; Marsee, Ary; van Tienderen, Gilles S.; Rezaeimoghaddam, Mohammad; Sheikh, Hafsah; Samsom, Roos-Anne; de Koning, Eelco J. P.; Fuchs, Sabine; Verstegen, Monique M. A.; van der Laan, Luc J. W.; van de Vosse, Frans; Malda, Jos; Ito, Keita; Spee, Bart; Schneeberger, Kerstin
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Enrichment of cell cycle pathways in progesterone-treated endometrial organoids of infertile women compared to fertile women
err2024-07-12
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errBui, 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.
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Direct Infusion Mass Spectrometry to Rapidly Map Metabolic Flux of Substrates Labeled with Stable Isotopes
err2024-04-25
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errMeijer, Nils W. F.; Zwakenberg, Susan; Gerrits, Johan; Westland, Denise; Ardisasmita, Arif I.; Fuchs, Sabine A.; Verhoeven-Duif, Nanda M.; Jans, Judith J. M.; Zwartkruis, Fried J. T.
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Prevention of legionella infections from toilet flushing cisterns
err2024-04-01
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PREAI
errBechmann, L.; Bauer, K.; Zerban, P.; Esser, T.; Tersteegen, A.; Fuchs, S. A.; Kaasch, A. J.; Wolleschak, D.; Schalk, E.; Fischer, T.; Mougiakakos, D.; Geginat, G.
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UPLC-Orbitrap-HRMS application for analysis of plasma sterols
err2024-04-01
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errvan der Ham, Maria; Gerrits, Johan; Prinsen, Berthil; van Hasselt, Peter; Fuchs, Sabine; Jans, Judith; Willems, Anke; de Sain-van der Velden, Monique
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Misidentification of neural cell identity in liver-derived organoid systems
err2024-03-01
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errSchene, Imre F.; Ardisasmita, Arif I.; Fuchs, Sabine A.
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Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders
err2024-02-19
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errSchwantje, Marit; Mosegaard, Signe; Knottnerus, Suzan J. G.; van Klinken, Jan Bert; Wanders, Ronald J.; van Lenthe, Henk; Hermans, Jill; IJlst, Lodewijk; Denis, Simone W.; Jaspers, Yorrick R. J.; Fuchs, Sabine A.; Houtkooper, Riekelt H.; Ferdinandusse, Sacha; Vaz, Frederic M.
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An unbiased approach of molecular characterization of the endometrium: toward defining endometrial-based infertility
err2023-12-14
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errBui, Bich Ngoc; Ardisasmita, Arif Ibrahim; Kuijk, Ewart; Altmae, Signe; Steba, Gaby; Mackens, Shari; Fuchs, Sabine; Broekmans, Frank; Nieuwenhuis, Edward
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