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

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

Downy Mildew Resistance in Arabidopsis by Mutation of HOMOSERINE KINASE

অনুযায়ী van Damme, Mireille, Zeilmaker, Tieme, Elberse, Joyce, Andel, Annemiek, de Sain-van der Velden, Monique, van den Ackerveken, Guido
প্রকাশিত 2009

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

অনুযায়ী Schwantje, Marit, de Sain‐van der Velden, Monique, Jans, Judith, van Gassen, Koen, Dorrepaal, Charlotte, Koop, Klaas, Visser, Gepke
প্রকাশিত JIMD Rep (2019)

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

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

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

অনুযায়ী Jeyaratnam, Jerold, ter Haar, Nienke M., de Sain-van der Velden, Monique G. M., Waterham, Hans R., van Gijn, Mariëlle E., Frenkel, Joost
প্রকাশিত JIMD Rep (2015)

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

অনুযায়ী Diekman, Eugene, de Sain-van der Velden, Monique, Waterham, Hans, Kluijtmans, Leo, Schielen, Peter, van Veen, Evert Ben, Ferdinandusse, Sacha, Wijburg, Frits, Visser, Gepke
প্রকাশিত JIMD Rep (2015)

Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion

অনুযায়ী Schene, Imre F., Kalinina Ayuso, Viera, de Sain-van der Velden, Monique, van Gassen, Koen L. I., Cuppen, Inge, van Hasselt, Peter M., Visser, Gepke
প্রকাশিত JIMD Rep (2015)

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

অনুযায়ী 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.
প্রকাশিত 2008

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

অনুযায়ী 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.
প্রকাশিত Mol Genet Metab Rep (2019)

Vitamin B6 in Plasma and Cerebrospinal Fluid of Children

অনুযায়ী 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.
প্রকাশিত PLoS One (2015)

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

অনুযায়ী 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
প্রকাশিত Neuropsychopharmacology (2015)

The Proline/Citrulline Ratio as a Biomarker for OAT Deficiency in Early Infancy

অনুযায়ী de Sain-van der Velden, Monique G. M., Rinaldo, Piero, Elvers, Bert, Henderson, Mick, Walter, John H, Prinsen, Berthil H. C. M. T., Verhoeven-Duif, Nanda M., de Koning, Tom J., van Hasselt, Peter
প্রকাশিত 2012

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

অনুযায়ী 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.
প্রকাশিত J Inherit Metab Dis (2020)

A New Approach for Fast Metabolic Diagnostics in CMAMMA

অনুযায়ী 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.
প্রকাশিত JIMD Rep (2016)

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

অনুযায়ী 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.
প্রকাশিত Int J Mol Sci (2020)

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

অনুযায়ী 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
প্রকাশিত 2010

Beneficial Effect of BH(4) Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12

অনুযায়ী de Sain-van der Velden, Monique G. M., Kuper, Willemijn F. E., Kuijper, Marie-Anne, van Kats, Lenneke A. T., Prinsen, Hubertus C. M. T., Balemans, Astrid C. J., Visser, Gepke, van Gassen, Koen L. I., van Hasselt, Peter M.
প্রকাশিত JIMD Rep (2018)

Neonatal carnitine concentrations in relation to gestational age and weight

অনুযায়ী 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.
প্রকাশিত JIMD Rep (2020)

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

অনুযায়ী 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.
প্রকাশিত Metabolites (2019)

Cross-Omics: Integrating Genomics with Metabolomics in Clinical Diagnostics

অনুযায়ী 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.
প্রকাশিত Metabolites (2020)