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prof. dr. E.E.S. Nieuwenhuis

prof. dr. E.E.S. Nieuwenhuis

Full Professor

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Research Output (137)

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.

Erratum: DGAT2 partially compensates for lipid-induced ER stress in human DGAT1-deficient intestinal stem cells

van Rijn Jorik M, van Hoesel Marliek, de Heus Cecilia, van Vugt Anke H M, Klumperman Judith, Nieuwenhuis Edward E S, Houwen Roderick H J, Middendorp Sabine 6 Oct 2021, In: Journal of Lipid Research. 62 , p. 1-1

Identifying the critically ill paediatric oncology patient:a study protocol for a prospective observational cohort study for validation of a modified Bedside Paediatric Early Warning System score in hospitalised paediatric oncology patients

Soeteman Marijn, Kappen Teus H, van Engelen Martine, Kilsdonk Ellen, Koomen Erik, Nieuwenhuis Edward E S, Tissing Wim J E, Fiocco Marta, van den Heuvel-Eibrink Marry, Wösten-van Asperen Roelie M 19 May 2021, In: BMJ Open. 11 8 p.

Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia

van Dooijeweert Birgit, Broeks Melissa H, van Beers Eduard J, Verhoeven-Duif Nanda M, van Solinge Wouter W, Nieuwenhuis Edward E S, Jans Judith J, van Wijk Richard, Bartels Marije 17 May 2021, In: British Journal of Haematology. 193 , p. 1185-1193 9 p.

Metabolic fingerprint in hereditary spherocytosis correlates with red blood cell characteristics and clinical severity

Van Dooijeweert Birgit, Broeks Melissa H., Verhoeven-Duif Nanda M., Van Solinge Wouter W., Van Beers Eduard J., Rab Minke A.E., Nieuwenhuis Edward E.S., Jans Judith J.M., Bartels Marije, Van Wijk Richard 2021, In: HemaSphere. 5 , p. 1-4

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.

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

Correlates of Fatigability in Patients With Spinal Muscular Atrophy

Bartels Bart, de Groot Janke F., Habets Laura E., Wadman Renske I., Asselman Fay Lynn, Nieuwenhuis Edward E.S., van Eijk Ruben P.A., Goedee H. Stephan, van der Pol W. Ludo 20 Nov 2020, In: Neurology. 96 , p. e845-e852

Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing Enteropathy

van Rijn Jorik M, Werner Lael, Aydemir Yusuf, Spronck Joey M A, Pode-Shakked Ben, van Hoesel Marliek, Shimshoni Elee, Polak-Charcon Sylvie, Talmi Liron, Eren Makbule, Weiss Batia, H J Houwen Roderick, Barshack Iris, Somech Raz, Nieuwenhuis Edward E S, Sagi Irit, Raas-Rothschild Annick, Middendorp Sabine, Shouval Dror S 1 Nov 2020, In: International journal of molecular sciences. 21 , p. 1-18 18 p.

Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for pyruvate kinase deficiency

Van Dooijeweert Birgit, Broeks Melissa H, Verhoeven-Duif Nanda M, Van Beers Eduard J, Nieuwenhuis Edward E S, Van Solinge Wouter W, Bartels Marije, Jans Judith J, Van Wijk Richard 10 Sep 2020, In: Haematologica. Online ahead of print , p. 1-20

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