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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 (52)

A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever

Ravel Jean-Marie, Dreumont Natacha, Mosca Pauline, Smith Desiree E C, Mendes Marisa I, Wiedemann Arnaud, Coelho David, Schmitt Emmanuelle, Rivière Jean-Baptiste, Tran Mau-Them Frédéric, Thevenon Julien, Kuentz Paul, Polivka Marc, Fuchs Sabine A, Kok Gautam, Thauvin-Robinet Christel, Guéant Jean-Louis, Salomons Gajja S, Faivre Laurence, Feillet François Dec 2021, In: Human mutation. 42 , p. 1576-1583 8 p.

Treatment of ARS deficiencies with specific amino acids

Kok Gautam, Tseng Laura, Schene Imre F., Dijsselhof Monique E., Salomons Gajja, Mendes Marisa I., Smith Desiree E.C., Wiedemann Arnaud, Canton Marie, Feillet François, de Koning Tom J., Boothe Megan, Dean Joy, Kassel Rachel, Ferreira Elise A., van den Born Margreet, Nieuwenhuis Edward E.S., Rehmann Holger, Terheggen-Lagro Suzanne W.J., van Karnebeek Clara D.M., Fuchs Sabine A. Nov 2021, In: Genetics in Medicine. 23 , p. 2202-2207 6 p.

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

Rossi Alessandro, Hoogeveen Irene J., Lubout Charlotte M.A., de Boer Foekje, Fokkert-Wilts Marieke J., Rodenburg Iris L., van Dam Esther, Grünert Sarah C., Martinelli Diego, Scarpa Maurizio, Dekker Hanka, te Boekhorst Sebastiaan T., van Spronsen Francjan J., Derks Terry G.J., de Baere Lut, Bellettato Cinzia, Bosch Annet M., Sallago Julieta Bonvin, Botto Lorenzo D., Brunner-Krainz Michaela, Carøe Camilla, Casswall Thomas, Contreras Pulido Enrique Landelino, Couce Maria L., Dessein Anne Frederique, Donati Maria Alice, Eyskens Francois, Moura De Souza Carolina Fischinger, Fraile Pilar Quijada, Fuchs Sabine Annemijn, Gasperini Serena, Haas Dorothea, Hernández Elena Martín, Hochuli Michel, Hugon Anne, Karall Daniela, Koeberl Dwight, Labrune Philippe, Lajic Svetlana, van Lingen Corine, Maiorana Arianna, Mention Karine, Moenig Isabelle, Mohnike Klaus, Montanari Chiara, Nassogne Marie Cécile, Parini Rossella, Rahman Shamima, Reyes Magali, Schwantje Marit, Sep 2021, In: Journal of Inherited Metabolic Disease. 44 , p. 1124-1135 12 p.

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.

Building consensus on definition and nomenclature of hepatic, pancreatic, and biliary organoids

Marsee Ary, Roos Floris J.M., Verstegen Monique M.A., Roos Floris, Verstegen Monique, Clevers Hans, Vallier Ludovic, Takebe Takanori, Huch Meritxell, Peng Weng Chuan, Forbes Stuart, Lemaigre Frédéric, de Koning Eelco, Gehart Helmuth, van der Laan Luc, Spee Bart, Boj Sylvia, Baptista Pedro, Schneeberger Kerstin, Soroka Carol, Heim Markus, Nuciforo Sandro, Zaret Kenneth, Saito Yoshimasa, Lutolf Matthias, Cardinale Vincenzo, Simons Ben, van IJzendoorn Sven, Kamiya Akihide, Chikada Hiromi, Wang Shuyong, Mun Seon Ju, Son Myung Jin, Onder Tamer Tevfik, Boyer James, Sato Toshiro, Georgakopoulos Nikitas, Meneses Andre, Broutier Laura, Boulter Luke, Grün Dominic, IJzermans Jan, Artegiani Benedetta, van Boxtel Ruben, Kuijk Ewart, Carpino Guido, Peltz Gary, Banales Jesus, Man Nancy, Fuchs Sabine, 6 May 2021, In: Cell stem cell. 28 , p. 816-832 17 p.

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

Parenti Ilaria, Lehalle Daphné, Nava Caroline, Torti Erin, Leitão Elsa, Person Richard, Mizuguchi Takeshi, Matsumoto Naomichi, Kato Mitsuhiro, Nakamura Kazuyuki, de Man Stella A., Cope Heidi, Shashi Vandana, Friedman Jennifer, Joset Pascal, Steindl Katharina, Rauch Anita, Muffels Irena, van Hasselt Peter M., Petit Florence, Smol Thomas, Le Guyader Gwenaël, Bilan Frédéric, Sorlin Arthur, Vitobello Antonio, Philippe Christophe, van de Laar Ingrid M.B.H., van Slegtenhorst Marjon A., Campeau Philippe M., Au Ping Yee Billie, Nakashima Mitsuko, Saitsu Hirotomo, Yamamoto Tatsuya, Nomura Yumiko, Louie Raymond J., Lyons Michael J., Dobson Amy, Plomp Astrid S., Motazacker M. Mahdi, Kaiser Frank J., Timberlake Andrew T., Fuchs Sabine A., Depienne Christel, Mignot Cyril, Acosta Maria T., Adam Margaret, Adams David R., Agrawal Pankaj B., Alejandro Mercedes E., Alvey Justin, 4 May 2021, In: Human Genetics. 140 , p. 1109-1120 12 p.

The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism

Lehmann Vivian, Schene Imre F., Ardisasmita Arif I., Liv Nalan, Veenendaal Tineke, Klumperman Judith, van der Doef Hubert P.J., Verkade Henkjan J., Verstegen Monique M.A., van der Laan Luc J.W., Jans Judith J.M., Verhoeven-Duif Nanda M., van Hasselt Peter M., Nieuwenhuis Edward E.S., Spee Bart, Fuchs Sabine A. 2021, In: Journal of Inherited Metabolic Disease. 45 , p. 353-365 13 p.

NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay

Muffels Irena J J, Wiame Elsa, Fuchs Sabine A, Massink Maarten P G, Rehmann Holger, Musch Jiska L I, Van Haaften Gijs, Vertommen Didier, van Schaftingen Emile, van Hasselt Peter M 2021, In: Brain communications. 3 , p. 1-14

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.

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