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

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

Assistant Professor

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Research Output (139)

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.

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.

Direct-infusion based metabolomics unveils biochemical profiles of inborn errors of metabolism in cerebrospinal fluid

Haijes Hanneke A, van der Ham Maria, Gerrits Johan, van Hasselt Peter M, Prinsen Hubertus C M T, de Sain-van der Velden Monique G M, Verhoeven-Duif Nanda M, Jans Judith J M 1 May 2019, In: Molecular Genetics and Metabolism. 127 , p. 51-57 7 p.

Identification of human D lactate dehydrogenase deficiency

Monroe Glen R, van Eerde Albertien M, Tessadori Federico, Duran Karen J, Savelberg Sanne M C, van Alfen Johanna C, Terhal Paulien A, van der Crabben Saskia N, Lichtenbelt Klaske D, Fuchs Sabine A, Gerrits Johan, van Roosmalen Markus J, van Gassen Koen L, van Aalderen Mirjam, Koot Bart G, Oostendorp Marlies, Duran Marinus, Visser Gepke, de Koning Tom J, Calì Francesco, Bosco Paolo, Geleijns Karin, de Sain-van der Velden Monique G M, Knoers Nine V, Bakkers Jeroen, Verhoeven-Duif Nanda M, van Haaften Gijs, Jans Judith J 1 Apr 2019, In: Nature Communications. 10

Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

Bleeker Jeannette C., Kok Irene L., Ferdinandusse Sacha, van der Pol W. Ludo, Cuppen Inge, Bosch Annet M., Langeveld Mirjam, Derks Terry G.J., Williams Monique, de Vries Maaike, Mulder Margot F., Gozalbo Estela R., de Sain-van der Velden Monique G.M., Rennings Alexander J., Schielen Peter J.C.I., Dekkers Eugenie, Houtkooper Riekelt H., Waterham Hans R., Pras-Raves Mia L., Wanders Ronald J.A., van Hasselt Peter M., Schoenmakers Marja, Wijburg Frits A., Visser Gepke 13 Feb 2019, In: Journal of Inherited Metabolic Disease. 42 , p. 414-423 10 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

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