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dr. H.C.M.T. Prinsen

Assistant Professor

  • Section Metabolic Diagnostics

Research Programs

Research Output (69)

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.

Vitamin B6 is essential for serine de novo biosynthesis

Ramos Rúben J., Pras-Raves Mia L., Gerrits Johan, van der Ham Maria, Willemsen Marcel, Prinsen Hubertus, Burgering Boudewijn, Jans Judith J., Verhoeven-Duif Nanda M. 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

de Sain-van der Velden Monique G M, van der Ham Maria, Gerrits Johan, Prinsen Hubertus C M T, Willemsen Marcel, Pras-Raves Mia L, Jans Judith J, Verhoeven-Duif Nanda M 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 Vittoria, Milona Alexandra, Vos Harmjan R., Ramos Rúben J J, Gerrits Johan, Willemsen Ellen C.L., Ramos Pittol José M., Ijssennagger Noortje, Houweling Martin, Prinsen Hubertus C.M.T., Verhoeven-Duif Nanda M., Burgering Boudewijn M.T., van Mil Saskia W.C. 1 mei 2017, In: Gastroenterology. 152 , p. 1462-1476.e10

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

Prinsen Hubertus C M T, Schiebergen-Bronkhorst B. G M, Roeleveld M. W., Jans J. J M, de Sain-van der Velden M. G M, Visser G., van Hasselt P. M., Verhoeven-Duif N. M. sep 2016, In: Journal of Inherited Metabolic Disease. 39 , p. 651–660 10 p.

All Research Output (69)