Diagnostic value of urinary mevalonic acid excretion in mevalonate kinase deficiency (MKD)

por Jeyaratnam, Jerold, Haar, Nienke ter, de Sain-van der Velden, Monique, van Gijn, Mariëlle, Frenkel, Joost
Publicado 2014

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

por Schwantje, Marit, de Sain‐van der Velden, Monique, Jans, Judith, van Gassen, Koen, Dorrepaal, Charlotte, Koop, Klaas, Visser, Gepke
Publicado 2019

Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns

por Crefcoeur, Loek L., Heiner‐Fokkema, M. Rebecca, Maase, Rose E., Visser, Gepke, de Sain‐van der Velden, Monique G. M.
Publicado 2022

Proline and COMT Status Affect Visual Connectivity in Children with 22q11.2 Deletion Syndrome

por Magnée, Maurice J. C. M., Lamme, Victor A. F., de Sain-van der Velden, Monique G. M., Vorstman, Jacob A. S., Kemner, Chantal
Publicado 2011

Efficacy and safety of disodium ascorbyl phytostanol phosphates in men with moderate dyslipidemia

por Vissers, Maud N., Trip, Mieke D., Pritchard, P. Haydn, Tam, Patrick, Lukic, Tatjana, de Sain-van der Velden, Monique G., de Barse, Martina, Kastelein, John J. P.
Publicado 2008

Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio

por 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.
Publicado 2019

Vitamin B6 in Plasma and Cerebrospinal Fluid of Children

por Albersen, Monique, Bosma, Marjolein, Jans, Judith J. M., Hofstede, Floris C., van Hasselt, Peter M., de Sain-van der Velden, Monique G. M., Visser, Gepke, Verhoeven-Duif, Nanda M.
Publicado 2015

Reduced Symptoms of Inattention after Dietary Omega-3 Fatty Acid Supplementation in Boys with and without Attention Deficit/Hyperactivity Disorder

por Bos, Dienke J, Oranje, Bob, Veerhoek, E Sanne, Van Diepen, Rosanne M, Weusten, Juliette MH, Demmelmair, Hans, Koletzko, Berthold, de Sain-van der Velden, Monique GM, Eilander, Ans, Hoeksma, Marco, Durston, Sarah
Publicado 2015

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

por Claesen, Joep L. A., Koomen, Erik, Schene, Imre F., Jans, Judith J. M., Mast, Natalia, Pikuleva, Irina A., van der Ham, Maria, de Sain‐van der Velden, Monique G. M., Fuchs, Sabine A.
Publicado 2020

Untargeted Metabolomics for Metabolic Diagnostic Screening with Automated Data Interpretation Using a Knowledge-Based Algorithm

por 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.
Publicado 2020

Whole body composition analysis by the BodPod air-displacement plethysmography method in children with phenylketonuria shows a higher body fat percentage

por Albersen, Monique, Bonthuis, Marjolein, de Roos, Nicole M., van den Hurk, Dorine A. M., Carbasius Weber, Ems, Hendriks, Margriet M. W. B., de Sain-van der Velden, Monique G. M., de Koning, Tom J., Visser, Gepke
Publicado 2010

Neonatal carnitine concentrations in relation to gestational age and weight

por 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.
Publicado 2020

Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients’ Dried Blood Spots and Plasma

por 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.
Publicado 2019

Cross-Omics: Integrating Genomics with Metabolomics in Clinical Diagnostics

por Kerkhofs, Marten H. P. M., Haijes, Hanneke A., Willemsen, A. Marcel, 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.
Publicado 2020

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

por 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.
Publicado 2023

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

por 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.
Publicado 2020

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

por 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.
Publicado 2020

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

por 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.
Publicado 2023

Identification of human D lactate dehydrogenase deficiency

por 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.
Publicado 2019