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dr. M.G.M. (Monique) de Sain-van der Velden

Assistant Professor

  • Section Metabolic Diagnostics

Research Programs

Research Output (133)

Neonatal carnitine concentrations in relation to gestational age and weight

Crefcoeur Loek L., de Sain-van der Velden Monique G.M., Ferdinandusse Sacha, Langeveld Mirjam, Maase Rose, Vaz Frédéric M., Visser Gepke, Wanders Ronald J.A., Wijburg Frits A., Verschoof-Puite Rendelien K., Schielen Peter C.J.I. 1 nov 2020, In: JIMD Reports. 56 , p. 95-104 10 p.

Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature:Strategies for optimization

Stroek Kevin, Boelen Anita, Bouva Marelle J., De Sain-van der Velden Monique, Schielen Peter C.J.I., Maase Rose, Engel Henk, Jakobs Bernadette, Kluijtmans Leo A.J., Mulder Margot F., Rubio-Gozalbo M. E., van Spronsen Francjan J., Visser Gepke, de Vries Maaike C., Williams Monique, Heijboer Annemieke C., Kemper Evelien A., Bosch Annet M. jul 2020, In: JIMD Reports. 54 , p. 68-78 11 p.

Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency

Bleeker Jeannette C., Visser Gepke, Clarke Kieran, Ferdinandusse Sacha, de Haan Ferdinand H., Houtkooper Riekelt H., IJlst Lodewijk, Kok Irene L., Langeveld Mirjam, van der Pol W. Ludo, de Sain-van der Velden Monique G.M., Sibeijn-Kuiper Anita, Takken Tim, Wanders Ronald J.A., van Weeghel Michel, Wijburg Frits A., van der Woude Luc H., Wüst Rob C.I., Cox Pete J., Jeneson Jeroen A.L. jul 2020, In: Journal of Inherited Metabolic Disease. 43 , p. 787-799 13 p.

Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots

Knottnerus Suzan J.G., Pras-Raves Mia L., van der Ham Maria, Ferdinandusse Sacha, Houtkooper Riekelt H., Schielen Peter C.J.I., Visser Gepke, Wijburg Frits A., de Sain-van der Velden Monique G.M. 1 jun 2020, In: Biochimica et Biophysica Acta - Molecular Basis of Disease. 1866 , p. 165725

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.

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

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.

Misdiagnosis of CTX due to propofol:the interference of total intravenous propofol anaesthesia with bile acid profiling

Claesen Joep LA, Koomen Erik, Schene Imre F, Jans Judith Jm, Mast Natalia, Pikuleva Irina A, van der Ham Maria, de Sain-van der Velden Monique Gm, Fuchs Sabine A 28 jan 2020, In: Journal of Inherited Metabolic Disease. 43 , p. 843-851 9 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.

Genetic defect of the sodium-dependent multivitamin transporter:A treatable disease, mimicking biotinidase deficiency

Schwantje Marit, de Sain-van der Velden Monique, Jans Judith, van Gassen Koen, Dorrepaal Charlotte, Koop Klaas, Visser Gepke jul 2019, In: JIMD Reports. 48 , p. 11-14 4 p.

All Research Output (133)