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dr. S.A. (Sabine) Fuchs

dr. S.A. (Sabine) Fuchs

Associate Professor - medical

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Research Output (65)

A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

Veldman Abigail, Kiewiet M B Gea, Westra Dineke, Bosch Annet M, Brands Marion M G, de Coo René I F M, Derks Terry G J, Fuchs Sabine A, van den Hout Johanna M P, Huidekoper Hidde H, Kluijtmans Leo A J, Koop Klaas, Lubout Charlotte M A, Mulder Margaretha F, Panis Bianca, Rubio-Gozalbo M Estela, de Sain-van der Velden Monique G, Schaefers Jaqueline, Schreuder Andrea B, Visser Gepke, Wevers Ron A, Wijburg Frits A, Heiner-Fokkema M Rebecca, van Spronsen Francjan J 11 Oct 2023, In: International Journal of Neonatal Screening. 9

The Effect of Genetic HLA Matching on Liver Transplantation Outcome:A Systematic Review and Meta-Analysis

Kok Gautam, Ilcken Eveline F, Houwen Roderick H J, Lindemans Caroline A, Nieuwenhuis Edward E S, Spierings Eric, Fuchs Sabine A Sep 2023, In: Annals of surgery open : perspectives of surgical history, education, and clinical approaches. 4 , p. 1-7

Next-generation Sequencing Performed in Patients Raising the Suspicion of an Inborn Error of Metabolism Uncovered a Homozygous Variant in Yars1 Allowing a Novel Therapeutic Trial

Nasser Samra Nadra, Morani Ilham, Bayan Hino, Bakry Doua, Shaalan Munia, Saadi Hadi, Beni Shrem Sara, Sawaed Alaa, Kok Gautam, Muffels Irena J, Fuchs Sabine A, Shapira-Rootman Mika, Mor-Shaked Hagar, Mandel Hanna Jun 2023, In: Harefuah. 162 , p. 344-351 8 p.

Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration

Muffels Irena J.J., Schene Imre F., Rehmann Holger, Massink Maarten P.G., van der Wal Maria M., Bauder Corinna, Labeur Martha, Armando Natalia G., Lequin Maarten H., Houben Michiel L., Giltay Jaques C., Haitjema Saskia, Huisman Albert, Vansenne Fleur, Bluvstein Judith, Pappas John, Shailee Lala V., Zarate Yuri A., Mokry Michal, van Haaften Gijs W., Nieuwenhuis Edward E.S., Refojo Damian, van Wijk Femke, Fuchs Sabine A., van Hasselt Peter M. 5 Jan 2023, In: American Journal of Human Genetics. 110 , p. 146-160 15 p.

A comprehensive transcriptomic comparison of hepatocyte model systems improves selection of models for experimental use

Ardisasmita Arif Ibrahim, Schene Imre F, Joore Indi P, Kok Gautam, Hendriks Delilah, Artegiani Benedetta, Mokry Michal, Nieuwenhuis Edward E S, Fuchs Sabine A 14 Oct 2022, In: Communications biology. 5

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 Annemarijne R J, Garrelfs Mark R, Udink Ten Cate Floris E A, Ferdinandusse Sacha, Denis Simone, Fuchs Sabine A, Schwantje Marit, Geurtzen Rosa, van Wegberg Annemiek M J, Huigen Marleen C D G, Kluijtmans Leo A J, Wanders Ronald J A, Derks Terry G J, de Boer Lonneke, Houtkooper Riekelt H, de Vries Maaike C, van Karnebeek Clara D M Jun 2022, In: Molecular Genetics and Metabolism Reports. 31

Assessment of human leukocyte antigen matching algorithm PIRCHE-II on liver transplantation outcomes

Kok Gautam, Verstegen Monique Ma, Houwen Roderick Hj, Nieuwenhuis Edward Es, Metselaar Herold J, Polak Wojciech G, van der Laan Luc Jw, Spierings Eric, den Hoed Caroline M, Fuchs Sabine A 25 Apr 2022, In: Liver Transplantation. 28 , p. 1356-1366 11 p.

Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy

Schwantje Marit, Ebberink Merel S., Doolaard Mirjam, Ruiter Jos P.N., Fuchs Sabine A., Darin Niklas, Hedberg-Oldfors Carola, Régal Luc, Donker Kaat Laura, Huidekoper Hidde H., Olpin Simon, Cole Duncan, Moat Stuart J., Visser Gepke, Ferdinandusse Sacha 11 Apr 2022, In: Journal of Inherited Metabolic Disease. 45 , p. 819-831 13 p.

Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands

Schwantje Marit, Fuchs Sabine A., de Boer Lonneke, Bosch Annet M., Cuppen Inge, Dekkers Eugenie, Derks Terry G.J., Ferdinandusse Sacha, Ijlst Lodewijk, Houtkooper Riekelt H., Maase Rose, van der Pol W. Ludo, de Vries Maaike C., Verschoof-Puite Rendelien K., Wanders Ronald J.A., Williams Monique, Wijburg Frits, Visser Gepke 5 Apr 2022, In: Journal of Inherited Metabolic Disease. 45 , p. 804-818 15 p.

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

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