prof. dr. N.M. Verhoeven-Duif Full Professor

Section Metabolic Diagnostics

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n.verhoeven@umcutrecht.nl

Research Output

Research Output

Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency

Pena Izabella A, Roussel Yann, Daniel Kate, Mongeon Kevin, Johnstone Devon, Weinschutz Mendes Hellen, Bosma Marjolein, Saxena Vishal, Lepage Nathalie, Chakraborty Pranesh, Dyment David A, van Karnebeek Clara D M, Verhoeven NM, Bui Tuan Vu, Boycott Kym M., Ekker Marc, MacKenzie Alex Dec 2017 In: Genetics. 207, p. 1501-1518 18 p.

Vitamin B6 is essential for serine de novo biosynthesis

Ramos RJJF, Raves ML, Gerrits Johan, van der Ham M., Willemsen AM, Prinsen HCMT, Burgering BMT, Jans JJM, Verhoeven NM Nov 2017 In: Journal of Inherited Metabolic Disease. 40, p. 883-891 9 p.

Quantification of metabolites in dried blood spots by direct infusion high resolution mass spectrometry

van der Velden MGM, van der Ham M., Gerrits Johan, Prinsen HCMT, Willemsen AM, Raves ML, Jans JJM, Verhoeven NM 1 Aug 2017 In: Analytica Chimica Acta. 979, p. 45-50 6 p.

Farnesoid X Receptor Activation Promotes Hepatic Amino Acid Catabolism and Ammonium Clearance in Mice

Massafra V, Milona A, Vos HR, Ramos RJJF, Gerrits Johan, Willemsen E.C.L., Ramos Pittol JM, IJssennagger N, Houweling Martin, Prinsen HCMT, Verhoeven NM, Burgering BMT, van Mil SWC 1 May 2017 In: Gastroenterology. 152, p. 1462-1476.e10

Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder

Lipstein Noa, Verhoeven NM, Michelassi Francesco E., Calloway Nathaniel, van Hasselt PM, Pienkowska Katarzyna, van Haaften GW, van Haelst MM, van Empelen R, Cuppen I, van Teeseling HC, Evelein AMV, Vorstman JAS, Thoms Sven, Jahn Olaf, Duran KJ, Monroe GR, Ryan Timothy A., Taschenberger Holger, Dittman Jeremy S., Rhee Jeong Seop, Visser G, Jans JJM, Brose Nils 1 Mar 2017 In: Journal of Clinical Investigation. 127, p. 1005-1018 14 p.

Saline is as effective as nitrogen scavengers for treatment of hyperammonemia

Straten G, van der Velden MGM, van Geijlswijk IM, Favier R.P., Mesu S.J., Holwerda-Loof N.E., van der Ham M., Fieten H., Rothuizen J., Spee B., Verhoeven NM 2017 In: Scientific Reports. 7

Interplay between metabolic identities in the intestinal crypt supports stem cell function

Rodriguez Colman MJ, Schewe Matthias, Meerlo M, Stigter ECA, Gerrits Johan, Raves ML, Sacchetti Andrea, Hornsveld M, Oost KC, Snippert HJG, Verhoeven NM, Fodde Riccardo, Burgering BMT 2017 In: Nature. 543, p. 424-427 4 p.

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

Monroe GR, Frederix Gerardus W., Savelberg Sanne M C, De Vries Tamar I., Duran KJ, van der Smagt JJ, Terhal PA, van Hasselt PM, Kroes HY, Verhoeven NM, Nijman IJ, Carbo EC, van Gassen KLI, Knoers VVAM, Hövels Anke M., van Haelst MM, Visser G, van Haaften GW 1 Sep 2016 In: Genetics in Medicine. 18, p. 949-956 8 p.

Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass-spectrometry

Prinsen HCMT, Schiebergen-Bronkhorst B. G M, Roeleveld M. W., Jans JJM, van der Velden MGM, Visser G, van Hasselt PM, Verhoeven NM Sep 2016 In: Journal of Inherited Metabolic Disease. 39, p. 651–660 10 p.

Development of psychopathology in deployed armed forces in relation to plasma GABA levels

Schür RR, Boks M, Geuze SG, Prinsen HCMT, Verhoeven NM, Joëls M, Kahn RS, Vermetten HGJM, Vinkers CH 17 Aug 2016 In: Psychoneuroendocrinology. 73, p. 263-270 8 p.

All Research Output (64)

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Research Output

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