Dr. M.G.M. de Sain-Van der Velden

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• Erfelijke metabole ziekten
• Neonatale hielprikscreening
• Metabolomics

Afdelingen / poliklinieken

Metabole diagnostiek, afdeling Genetica

Wetenschappelijk onderzoek en publicaties uitklapper, klik om te openen

Publicaties

5 key publications

• Diekman E, de Sain-van der Velden M, Waterham H, Kluijtmans L, Schielen P, van Veen EB, Ferdinandusse S, Wijburg F, Visser G. The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency. JIMD Rep. 2015 Oct 10.
• Monique GM de Sain- van der Velden, Maria van der Ham; Judith  J Jans , PhD; Gepke  Visser , MD, PhD; Peter  M van Hasselt , MD, PhD; Hubertus  C Prinsen , PhD; Nanda M Verhoeven-Duif , PhD. Suitability of methylmalonic acid and total homocysteine analysis in dried bloodspots . Anal Chim Acta. 2015 Jan 1;853:435-41
• Monique G.M. de Sain-van der Velden, Eugene F. Diekman, Judith J. Jans, Maria van der Ham, Berthil H.C.M.T. Prinsen, Gepke Visser, Nanda M. Verhoeven-Duif. Differences between acylcarnitine profiles in plasma and bloodspots. Molecular Genetics and Metabolism 110 (2013) 116–21.
• Gregg Marquardt MSS et al. Enhanced interpretation of newborn screening results without analyte cutoff values. Genetics in Medicine (2012)14, 648–55.
• Maurice J. C. M. Magnee, Victor A. F. Lamme, Monique G. M. de Sain-van der Velden, Jacob A. S. Vorstman, Chantal Kemner. Proline and COMT status affect visual connectivity in children with 22q11.2 deletion syndrome. PLoS One. 2011;6(10):e25882.