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dr. S.A. (S.A.) Fuchs

dr. S.A. (S.A.) Fuchs

Associate Professor - medical

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Research Output (44)

NANS-CDG:Delineation of the Genetic, Biochemical, and Clinical Spectrum

den Hollander Bibiche, Rasing Anne, Post Merel A, Klein Willemijn M, Oud Machteld M, Brands Marion M, de Boer Lonneke, Engelke Udo F H, van Essen Peter, Fuchs Sabine A, Haaxma Charlotte A, Jensson Brynjar O, Kluijtmans Leo A J, Lengyel Anna, Lichtenbelt Klaske D, Østergaard Elsebet, Peters Gera, Salvarinova Ramona, Simon Marleen E H, Stefansson Kari, Thorarensen Ólafur, Ulmen Ulrike, Coene Karlien L M, Willemsen Michèl A, Lefeber Dirk J, van Karnebeek Clara D M jun 2021, In: Frontiers in Neurology. 12 21 p.

High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome

Molema F, Haijes H A, Janssen M C, Bosch A M, van Spronsen F J, Mulder M F, Verhoeven-Duif N M, Jans J J M, van der Ploeg A T, Wagenmakers M A, Rubio-Gozalbo M E, Brouwers M C G J, de Vries M C, Fuchs S, Langendonk J G, Rizopoulos D, van Hasselt P M, Williams M 25 dec 2020, In: Clinical Nutrition. 40 , p. 3622-3630 9 p.

Human extrahepatic and intrahepatic cholangiocyte organoids show region-specific differentiation potential and model cystic fibrosis-related bile duct disease

Verstegen Monique M A, Roos Floris J M, Burka Ksenia, Gehart Helmuth, Jager Myrthe, de Wolf Maaike, Bijvelds Marcel J C, de Jonge Hugo R, Ardisasmita Arif I, van Huizen Nick A, Roest Henk P, de Jonge Jeroen, Koch Michael, Pampaloni Francesco, Fuchs Sabine A, Schene Imre F, Luider Theo M, van der Doef Hubert P J, Bodewes Frank A J A, de Kleine Ruben H J, Spee Bart, Kremers Gert-Jan, Clevers Hans, IJzermans Jan N M, Cuppen Edwin, van der Laan Luc J W 14 dec 2020, In: Scientific Reports. 10 , p. 1-16 16 p.

Prime editing for functional repair in patient-derived disease models

Schene Imre F, Joore Indi P, Oka Rurika, Mokry Michal, van Vugt Anke H M, van Boxtel Ruben, van der Doef Hubert P J, van der Laan Luc J W, Verstegen Monique M A, van Hasselt Peter M, Nieuwenhuis Edward E S, Fuchs Sabine A 1 dec 2020, In: Nature Communications. 11

Ethical challenges for pediatric liver organoid transplantation

Schneemann Sarah A, Boers Sarah N, van Delden Johannes J M, Nieuwenhuis Edward E S, Fuchs Sabine A, Bredenoord Annelien L 15 jul 2020, In: Science translational medicine. 12 , p. 1-3

Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity

Kuper Willemijn F E, Oostendorp Marlies, van den Broek Brigitte T A, van Veghel Karin, Nonkes Lourens J P, Nieuwenhuis Edward E S, Fuchs Sabine A, Veenendaal Tineke, Klumperman Judith, Huisman Albert, Nierkens Stefan, van Hasselt Peter M jul 2020, In: JIMD Reports. 54 , p. 87-97 11 p.

Long-Term Survival of Transplanted Autologous Canine Liver Organoids in a COMMD1-Deficient Dog Model of Metabolic Liver Disease

Kruitwagen Hedwig S, Oosterhoff Loes A, van Wolferen Monique E, Chen Chen, Nantasanti Assawarachan Sathidpak, Schneeberger Kerstin, Kummeling Anne, van Straten Giora, Akkerdaas Ies C, Vinke Christel R, van Steenbeek Frank G, van Bruggen Leonie W L, Wolfswinkel Jeannette, Grinwis Guy C M, Fuchs Sabine A, Gehart Helmuth, Geijsen Niels, Vries Robert G, Clevers Hans, Rothuizen Jan, Schotanus Baukje A, Penning Louis C, Spee Bart 11 feb 2020, In: Cells. 9

Misdiagnosis of CTX due to propofol:the interference of total intravenous propofol anaesthesia with bile acid profiling

Claesen Joep LA, Koomen Erik, Schene Imre F, Jans Judith Jm, Mast Natalia, Pikuleva Irina A, van der Ham Maria, de Sain-van der Velden Monique Gm, Fuchs Sabine A 28 jan 2020, In: Journal of Inherited Metabolic Disease. 43 , p. 843-851 9 p.

Correction:Aminoacyl-tRNA synthetase deficiencies in search of common themes

Fuchs Sabine A, Schene Imre F, Kok Gautam, Jansen Jurriaan M, Nikkels Peter G J, van Gassen Koen L I, Terheggen-Lagro Suzanne W J, van der Crabben Saskia N, Hoeks Sanne E, Niers Laetitia E M, Wolf Nicole I, de Vries Maaike C, Koolen David A, Houwen Roderick H J, Mulder Margot F, van Hasselt Peter M 2020, In: Genetics in Medicine. p. 1-1

Mitochondrial Cardiomyopathy

Blank AC, Breur JMPJ, Fuchs S.A., Koop K, Baas AF 2020, p. 179-190

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