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dr. H.C.M.T. Prinsen

dr. H.C.M.T. Prinsen

Assistant Professor
  • Section Metabolic Diagnostics

Research Programs

Child Health

Research Output (73)

A second case of glutaminase hyperactivity:Expanding the phenotype with epilepsy

Rumping Lynne, Pouwels Petra J.W., Wolf Nicole I., Rehmann Holger, Wamelink Mirjam M.C., Waisfisz Quinten, Jans Judith J.M., Prinsen Hubertus C.M.T., van de Kamp Jiddeke M., van Hasselt Peter M. May 2023, In: JIMD Reports. 64 , p. 217-222 6 p.

Evaluation of PEG-L-asparaginase in asparagine suppression and anti-drug antibody development in healthy Beagle dogs:A multi-phase preclinical study

Feenstra L R, Gehring R, van Geijswijk I M, König T, Prinsen H C M T, Vandemeulebroecke K, Lammens T, Krupa A, Teske E Aug 2022, In: The Veterinary Journal. 286

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 May 2020, In: Metabolites. 10 15 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. Mar 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.

Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation

Haijes Hanneke A., de Sain-van der Velden Monique G.M., Prinsen Hubertus C.M.T., Willems Anke P., van der Ham Maria, Gerrits Johan, Couse Madeline H., Friedman Jan M., van Karnebeek Clara D.M., Selby Kathryn A., van Hasselt Peter M., Verhoeven-Duif Nanda M., Jans Judith J.M. 1 Aug 2019, In: Molecular Genetics and Metabolism. 127 , p. 368-372 5 p.

GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay

Rumping Lynne, Tessadori Federico, Pouwels Petra J.W., Vringer Esmee, Wijnen Jannie P., Bhogal Alex A., Savelberg Sanne M.C., Duran Karen J., Bakkers Mark J.G., Ramos Rúben J.J., Schellekens Peter A.W., Kroes Hester Y., Klomp Dennis W.J., Black Graeme C.M., Taylor Rachel L., Bakkers Jeroen P.W., Prinsen Hubertus C.M.T., van der Knaap Marjo S., Dansen Tobias B., Rehmann Holger, Zwartkruis Fried J.T., Houwen Roderick H.J., van Haaften Gijs, Verhoeven-Duif Nanda M., Jans Judith J.M., van Hasselt Peter M. 1 Jan 2019, In: Human Molecular Genetics. 28 , p. 96-104 9 p.

Direct infusion based metabolomics identifies metabolic disease in patients’ dried blood spots and plasma

Haijes Hanneke A., Willemsen Marcel, van der Ham Maria, Gerrits Johan, Pras-Raves Mia L., Prinsen Hubertus C.M.T., van Hasselt Peter M., de Sain-Van der Velden Monique G.M., Verhoeven-Duif Nanda M., Jans Judith J.M. 1 Jan 2019, In: Metabolites. 9

Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy

Rumping Lynne, Büttner Benjamin, Maier Oliver, Rehmann Holger, Lequin Maarten, Schlump Jan Ulrich, Schmitt Bernhard, Schiebergen-Bronkhorst Birgit, Prinsen Hubertus C.M.T., Losa Michele, Fingerhut Ralph, Lemke Johannes R., Zwartkruis Fried J.T., Houwen Roderick H.J., Jans Judith J.M., Verhoeven-Duif Nanda M., Van Hasselt Peter M., Jamra Rami 21 Dec 2018, In: JAMA Neurology. 76 , p. 342-350 9 p.

Beneficial Effect of BHTreatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12

de Sain-van der Velden Monique G M, Kuper Willemijn F E, Kuijper Marie-Anne, van Kats Lenneke A T, Prinsen Hubertus C M T, Balemans Astrid C J, Visser Gepke, van Gassen Koen L I, van Hasselt Peter M 30 Jan 2018, 42 , p. 99-103 5 p.

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