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prof. dr. N.M. Verhoeven-Duif

Full Professor
prof. dr. N.M. Verhoeven-Duif
  • Section Metabolic Diagnostics

Research Output (99)

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

Hurdles in treating Hurler disease:potential routes to achieve a "real" cure

van den Broek Brigitte T A, van Doorn Jaap, Hegeman Charlotte V, Nierkens Stefan, Lindemans Caroline A, Verhoeven-Duif Nanda, Boelens Jaap Jan, van Hasselt Peter M 23 jun 2020, In: Blood Advances. 4 , p. 2837-2849 13 p.

Cross-omics:Integrating genomics with metabolomics in clinical diagnostics

Kerkhofs Marten H.P.M., Haijes Hanneke A., Marcel Willemsen A., Van Gassen Koen L.I., Van Der Ham Maria, Gerrits Johan, De Sain-Van Der Velden Monique G.M., Prinsen Hubertus C.M.T., Van Deutekom Hanneke W.M., Van Hasselt Peter M., Verhoeven-Duif Nanda M., Jans Judith J.M. 18 mei 2020, In: Metabolites. 10 15 p.

Understanding acute metabolic decompensation in propionic and methylmalonic acidemias:a deep metabolic phenotyping approach

Haijes H A, Jans J J M, van der Ham M, van Hasselt P M, Verhoeven-Duif N M 6 mrt 2020, In: Orphanet Journal of Rare Diseases. 15 , p. 1-13

Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity

Rumping Lynne, Pras-Raves Mia L, Gerrits Johan, Tang Yuen Fung, Willemsen Marcel A, Houwen Roderick H J, van Haaften Gijs, van Hasselt Peter M, Verhoeven-Duif Nanda M, Jans Judith J M 1 mrt 2020, In: Biochimica et biophysica acta-General subjects. 1864 , p. 1-7

Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations

Ciapaite Jolita, Albersen Monique, Savelberg Sanne M C, Bosma Marjolein, Tessadori Federico, Gerrits Johan, Lansu Nico, Zwakenberg Susan, Bakkers Jeroen P W, Zwartkruis Fried J T, van Haaften Gijs, Jans Judith J, Verhoeven-Duif Nanda M 1 mrt 2020, In: Biochimica et Biophysica Acta. Molecular Basis of Disease. 1866 11 p.

Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio

Haijes H. A., Prinsen Hubertus C.M.T., de Sain-van der Velden Monique G.M., Verhoeven-Duif Nanda M., van Hasselt Peter M., Jans Judith J.M. mrt 2020, In: Molecular Genetics and Metabolism Reports. 22 , p. 1-6

Untargeted metabolomics for metabolic diagnostic screening with automated data interpretation using a knowledge-based algorithm

Haijes Hanneke A., van der Ham Maria, Prinsen Hubertus C.M.T., Broeks Melissa H., van Hasselt Peter M., de Sain-Van der Velden Monique G.M., Verhoeven-Duif Nanda M., Jans Judith J.M. 1 feb 2020, In: International journal of molecular sciences. 21 12 p.

NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype and epileptiform activity in a novel zebrafish model for Dravet syndrome

Weuring Wout J., Singh Sakshi, Volkers Linda, Rook Martin B., Van't Slot Ruben H., Bosma Marjolein, Inserra Marco, Vetter Irina, Verhoeven-Duif Nanda M., Braun Kees P.J., Rivara Mirko, Koeleman Bobby P.C. 1 jan 2020, In: PLoS ONE. 15 , p. 1-17

Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia:what to aim, expect and evaluate from newborn screening?

Haijes H A, Molema F, Langeveld M, 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, Langendonk J G, Williams M, van Hasselt P M 11 dec 2019, In: Journal of Inherited Metabolic Disease. 43 , p. 424-437 14 p.

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