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dr. ing. G.H.H. (Monique) de Lievaart-van der Wuite

dr. ing. G.H.H. (Monique) de Lievaart-van der Wuite

Assistant Professor

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Research Output (134)

Saline is as effective as nitrogen scavengers for treatment of hyperammonemia

Straten G, de Sain-van der Velden M G M, van Geijlswijk I M, Favier R.P., Mesu S.J., Holwerda-Loof N.E., van der Ham M, Fieten H., Rothuizen J., Spee B., Verhoeven-Duif N M 2017, In: Scientific Reports. 7

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

Ait-El-Mkadem Samira, Dayem-Quere Manal, Gusic Mirjana, Chaussenot Annabelle, Bannwarth Sylvie, François Bérengère, Genin Emmanuelle C, Fragaki Konstantina, Volker-Touw Catharina L M, Vasnier Christelle, Serre Valérie, van Gassen Koen L I, Lespinasse Françoise, Richter Susan, Eisenhofer Graeme, Rouzier Cécile, Mochel Fanny, De Saint-Martin Anne, Abi Warde Marie-Thérèse, de Sain-van der Velden Monique G M, Jans Judith J M, Amiel Jeanne, Avsec Ziga, Mertes Christian, Haack Tobias B, Strom Tim, Meitinger Thomas, Bonnen Penelope E, Taylor Robert W, Gagneur Julien, van Hasselt Peter M, Rötig Agnès, Delahodde Agnès, Prokisch Holger, Fuchs Sabine A, Paquis-Flucklinger Véronique 10 Dec 2016, In: American Journal of Human Genetics. 100 , p. 151–159

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

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. Sep 2016, In: Journal of Inherited Metabolic Disease. 39 , p. 651–660 10 p.

A new approach for fast metabolic diagnostics in CMAMMA

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. 1 Jan 2016, 30 , p. 15-22 8 p.

Stofwisselingsziekten binnen de psychiatrie

De Sain-Van der Velden M G M, Jans J J, Figee M, Engelen M, Prinsen H C M T, Verhoeven-Duif N M, van Kuilenburg A B P, Visser G, Vinkers C H 2016, In: Tijdschrift voor Psychiatrie. 58 , p. 402-406 5 p.

Altered Energetics of Exercise Explain Risk of Rhabdomyolysis in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency

Diekman E F, Visser G, Schmitz J P J, Nievelstein R A J, de Sain-van der Velden M, Wardrop M, Van der Pol W L, Houten S M, van Riel N A W, Takken T, Jeneson J A L 2016, In: PLoS ONE [E]. 11 19 p.

The Newborn Screening Paradox:Sensitivity vs. Overdiagnosis in VLCAD Deficiency

Diekman Eugene, de Sain-van der Velden Monique, Waterham Hans, Kluijtmans Leo, Schielen Peter, van Veen Evert Ben, Ferdinandusse Sacha, Wijburg Frits, Visser Gepke 2016, 27 , p. 101-106 6 p.

Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum

Sala P Ruiz, Ruijter G, Acquaviva C, Chabli A, de Sain-van der Velden M G M, Garcia-Villoria J, Heiner-Fokkema M R, Jeannesson-Thivisol E, Leckstrom K, Franzson L, Lynes G, Olesen J, Onkenhout W, Petrou P, Drousiotou A, Ribes A, Vianey-Saban C, Merinero B 2016, In: JIMD Reports. 30 , p. 23-31 9 p.

Diagnostic value of urinary mevalonic acid excretion in patietns with a clinical suspicion of mevalonate kinase deficiency (MKD)

Jeyaratnam J., ter Haar N., de Sain-van der Velden M., Waterham H., van Gijn M., Frenkel J. 28 Sep 2015, p. O57

Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD)

Jeyaratnam Jerold, Ter Haar Nienke M, de Sain-van der Velden Monique G M, Waterham Hans R, van Gijn Mariëlle E, Frenkel Joost 27 Sep 2015, In: JIMD Reports. 6 p.

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