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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)

A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases

Willems Anke P, van der Ham Maria, Schiebergen-Bronkhorst Birgit G M, van Aalderen Mirjam, de Barse Martina M J, De Gruyter Fini E, van Hoek Ilja N, Pras-Raves Mia L, de Sain-van der Velden Monique G M, Prinsen Hubertus C M T, Verhoeven-Duif Nanda M, Jans Judith J M 2 Nov 2023, In: Frontiers in Molecular Biosciences. 10 9 p.

A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

Veldman Abigail, Kiewiet M B Gea, Westra Dineke, Bosch Annet M, Brands Marion M G, de Coo René I F M, Derks Terry G J, Fuchs Sabine A, van den Hout Johanna M P, Huidekoper Hidde H, Kluijtmans Leo A J, Koop Klaas, Lubout Charlotte M A, Mulder Margaretha F, Panis Bianca, Rubio-Gozalbo M Estela, de Sain-van der Velden Monique G, Schaefers Jaqueline, Schreuder Andrea B, Visser Gepke, Wevers Ron A, Wijburg Frits A, Heiner-Fokkema M Rebecca, van Spronsen Francjan J 11 Oct 2023, In: International Journal of Neonatal Screening. 9

Optimising urinary catecholamine metabolite diagnostics for neuroblastoma

Matser Yvette A H, Verly Iedan R N, van der Ham Maria, de Sain-van der Velden Monique G M, Verhoeven-Duif Nanda M, Ash Shifra, Cangemi Giuliana, Barco Sebastiano, Popovic Maja Beck, van Kuilenburg André B P, Tytgat Godelieve A M, Jun 2023, In: Pediatric Blood & Cancer. 70

Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1

van Vliet K., Dijkstra A. M., Bouva M. J., van der Krogt J., Bijsterveld K., van der Sluijs F., de Sain-van der Velden M. G., Koop K., Rossi A., Thomas J. A., Patera C. A., Kiewiet M. B.G., Waters P. J., Cyr D., Boelen A., van Spronsen F. J., Heiner-Fokkema M. R. 2023, In: Journal of Inherited Metabolic Disease. 46 , p. 1104-1113 10 p.

Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency:A cohort study

Bayat Allan, Aledo-Serrano Angel, Gil-Nagel Antonio, Korff Christian M, Thomas Ashley, Boßelmann Christian, Weber Yvonne, Gardella Elena, Lund Allan M, de Sain-van der Velden Monique G M, Møller Rikke S Jun 2022, In: Developmental Medicine and Child Neurology. 64 , p. 789-798 10 p.

Novel Orally Formulated Mixed Micelles Optimize Vitamin K Absorption Under Bile-Deficient Conditions

Rooimans Thijs, Minderhoud Tanca, Leal Nerea, Vromans Herman, van Nostrum Cornelus, van Hasselt Peter, Rodriguez M., Sun F., Oussoren C., Slot T. K., van der Ham M., Janssens G. E.P.J., de Sain-van der Velden M. G.M., Houwen R. H.J., de Koning T. J., Hennink W. E., Sep 2021, In: Gastroenterology. 161 , p. 1056-1059.e5

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

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