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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)

Glucose transporter type 1 deficiency syndrome and the ketogenic diet

Schwantje Marit, Verhagen Lilly M., van Hasselt Peter M., Fuchs Sabine A. 12 Oct 2019, In: Journal of Inherited Metabolic Disease. 43 , p. 216-222 7 p.

MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy

Broeks Melissa H., Shamseldin Hanan E., Alhashem Amal, Hashem Mais, Abdulwahab Firdous, Alshedi Tarfa, Alobaid Iman, Zwartkruis Fried, Westland Denise, Fuchs Sabine, Verhoeven-Duif Nanda M., Jans Judith J.M., Alkuraya Fowzan S. 19 Sep 2019, In: Human Genetics. 138 , p. 1247-1257 11 p.

A narrative review of factors associated with the development and progression of non-alcoholic fatty liver disease

de Nooijer Annemiek, Vreugdenhil Anita, Karnebeek Kylie, van Hasselt PM, Fuchs S.A. 28 Jun 2019, In: GastroHep. 1 , p. 180-191 12 p.

Identification of human D lactate dehydrogenase deficiency

Monroe Glen R, van Eerde Albertien M, Tessadori Federico, Duran Karen J, Savelberg Sanne M C, van Alfen Johanna C, Terhal Paulien A, van der Crabben Saskia N, Lichtenbelt Klaske D, Fuchs Sabine A, Gerrits Johan, van Roosmalen Markus J, van Gassen Koen L, van Aalderen Mirjam, Koot Bart G, Oostendorp Marlies, Duran Marinus, Visser Gepke, de Koning Tom J, Calì Francesco, Bosco Paolo, Geleijns Karin, de Sain-van der Velden Monique G M, Knoers Nine V, Bakkers Jeroen, Verhoeven-Duif Nanda M, van Haaften Gijs, Jans Judith J 1 Apr 2019, In: Nature Communications. 10

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 1 Feb 2019, In: Genetics in Medicine. 21 , p. 319-330 12 p.

Glycogen storage disease type IV:A rare cause for neuromuscular disorders or often missed?

Schene Imre F., Korenke Christoph G., Huidekoper Hidde H., van der Pol Ludo, Dooijes Dennis, Breur Johannes M.P.J., Biskup Saskia, Fuchs Sabine A., Visser Gepke 20 Dec 2018, p. 99-104 6 p.

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

Theunissen Tom E.J., Nguyen Minh, Kamps Rick, Hendrickx Alexandra T., Sallevelt Suzanne C.E.H., Gottschalk Ralph W.H., Calis Chantal M., Stassen Alphons P.M., De Koning Bart, Mulder-Den Hartog Elvira N.M., Schoonderwoerd Kees, Fuchs Sabine A., Hilhorst-Hofstee Yvonne, De Visser Marianne, Vanoevelen Jo, Szklarczyk Radek, Gerards Mike, De Coo Irenaeus F.M., Hellebrekers Debby M.E.I., Smeets Hubert J.M. 12 Oct 2018, In: Frontiers in Genetics. 9

Aminoacyl-tRNA synthetase deficiencies: in search of common themes

Kok G, Schene IF, Nikkels PGJ, van Gassen KLI, Terheggen-Lagro Suzanne W.J., van der Crabben SN, Niers L.E.M., Wolf V.I., de Vries M.C., Koolen D.A., Houwen RHJ, Mulder M.F., van Hasselt PM, Fuchs SA 4 Sep 2018, p. 1 1 p.

CTX or propofol? Interference of urinary bile acid profiling by propofol

Fuchs SA, Koomen E, Schene IF, Mast N., Pikuleva I.A., Jans JJM, van der Velden MGM 4 Sep 2018, 1 p.

Interference of urinary bile acid profiling by propofol

Fuchs SA, Koomen E, Schene IF, Jans JJM, van der Velden MGM 4 Sep 2018, 1 p.

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