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

od 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.
izdano v Mol Genet Metab Rep (2019)

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

od 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.
izdano v J Inherit Metab Dis (2016)

A New Approach for Fast Metabolic Diagnostics in CMAMMA

od de Sain-van der Velden, Monique G. M., van der Ham, Maria, Jans, Judith J., Visser, Gepke, Prinsen, Hubertus C. M. T., Verhoeven-Duif, Nanda M., van Gassen, Koen L. I., van Hasselt, Peter M.
izdano v JIMD Rep (2016)

Untargeted Metabolomics for Metabolic Diagnostic Screening with Automated Data Interpretation Using a Knowledge-Based Algorithm

od 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.
izdano v Int J Mol Sci (2020)

Beneficial Effect of BH(4) Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12

od 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.
izdano v JIMD Rep (2018)

Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients’ Dried Blood Spots and Plasma

od 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.
izdano v Metabolites (2019)

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

od 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
izdano v JAMA Neurol (2018)

Cross-Omics: Integrating Genomics with Metabolomics in Clinical Diagnostics

od Kerkhofs, Marten H. P. M., Haijes, Hanneke A., Willemsen, A. Marcel, 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.
izdano v Metabolites (2020)

Monitoring phenylalanine concentrations in the follow‐up of phenylketonuria patients: An inventory of pre‐analytical and analytical variation

od Coene, Karlien L. M., Timmer, Corrie, Goorden, Susan M. I., ten Hoedt, Amber E., Kluijtmans, Leo A. J., Janssen, Mirian C. H., Rennings, Alexander J. M., Prinsen, Hubertus C. M. T., Wamelink, Mirjam M. C., Ruijter, George J. G., Körver‐Keularts, Irene M. L. W., Heiner‐Fokkema, M. Rebecca, van Spronsen, Francjan J., Hollak, Carla E., Vaz, Frédéric M., Bosch, Annet M., Huigen, Marleen C. D. G.
izdano v JIMD Rep (2020)