Monique G M de Sain-van der Velden
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Explore the profile of Monique G M de Sain-van der Velden including associated specialties, affiliations and a list of published articles.
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Recent Articles
1.
Matser Y, Samim A, Fiocco M, van de Mheen M, van der Ham M, de Sain-van der Velden M, et al.
JCO Precis Oncol
. 2025 Feb;
9:e2400491.
PMID: 39983076
Purpose: Urinary catecholamine metabolites are well-known biomarkers for the diagnosis (Dx) of neuroblastoma, but their clinical significance in determining therapy response during treatment is not well established. Therefore, catecholamines are...
2.
Ferreira E, Hofstede F, Haijes-Siepel H, Lichtenbelt K, Pistorius L, de Sain-van der Velden M, et al.
Genet Med Open
. 2024 Dec;
2:101853.
PMID: 39669634
Purpose: Molybdenum cofactor deficiency (MoCD) classically presents shortly after birth, with neurological symptoms ascribed to postnatal toxicity of accumulating sulphite. Case reports suggest that cerebral damage associated with MoCD may...
3.
Kiewiet G, Westra D, de Boer E, van Berkel E, Hofste T, van Zweeden M, et al.
Int J Neonatal Screen
. 2024 Mar;
10(1).
PMID: 38535124
In this study, we compare next-generation sequencing (NGS) approaches (targeted panel (tNGS), whole exome sequencing (WES), and whole genome sequencing (WGS)) for application in newborn screening (NBS). DNA was extracted...
4.
Willems A, van der Ham M, Schiebergen-Bronkhorst B, van Aalderen M, de Barse M, De Gruyter F, et al.
Front Mol Biosci
. 2023 Nov;
10:1283083.
PMID: 38028537
Early diagnosis of inherited metabolic diseases (IMDs) is important because treatment may lead to reduced mortality and improved prognosis. Due to their diversity, it is a challenge to diagnose IMDs...
5.
Matser Y, Verly I, van der Ham M, de Sain-van der Velden M, Verhoeven-Duif N, Ash S, et al.
Pediatr Blood Cancer
. 2023 Apr;
70(6):e30289.
PMID: 37010353
Introduction: The analysis of urinary catecholamine metabolites is a cornerstone of neuroblastoma diagnostics. Currently, there is no consensus regarding the sampling method, and variable combinations of catecholamine metabolites are being...
6.
Crefcoeur L, Heiner-Fokkema M, Maase R, Visser G, de Sain-van der Velden M
JIMD Rep
. 2023 Jan;
64(1):57-64.
PMID: 36636597
In the Netherlands, newborns are referred by the newborn screening (NBS) Program when a low free carnitine (C0) concentration (<5 μmol/l) is detected in their NBS dried blood spot. This...
7.
Bayat A, Aledo-Serrano A, Gil-Nagel A, Korff C, Thomas A, Bosselmann C, et al.
Dev Med Child Neurol
. 2022 Jan;
64(6):789-798.
PMID: 35080266
Aim: To investigate the short-term efficacy and safety of high-dose pyridoxine and pyridoxal 5-phosphate (P5P) in the treatment of inherited glycosylphosphatidylinositol (GPI) deficiency-associated epilepsy. Method: Participants with genetically confirmed GPI...
8.
Crefcoeur L, de Sain-van der Velden M, Ferdinandusse S, Langeveld M, Maase R, Vaz F, et al.
JIMD Rep
. 2020 Nov;
56(1):95-104.
PMID: 33204600
Background: Free carnitine has been measured in the Dutch newborn screening (NBS) program since 2007 with a referral threshold of ≤5 μmol/L, regardless of gestational age or birthweight. However, several...
9.
Kerkhofs M, Haijes H, Willemsen A, van Gassen K, van der Ham M, Gerrits J, et al.
Metabolites
. 2020 May;
10(5).
PMID: 32443577
Next-generation sequencing and next-generation metabolic screening are, independently, increasingly applied in clinical diagnostics of inborn errors of metabolism (IEM). Integrated into a single bioinformatic method, these two -omics technologies can...
10.
Knottnerus S, Pras-Raves M, van der Ham M, Ferdinandusse S, Houtkooper R, Schielen P, et al.
Biochim Biophys Acta Mol Basis Dis
. 2020 Feb;
1866(6):165725.
PMID: 32061778
Purpose: Newborns who test positive for very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) in newborn screening may have a severe phenotype with early onset of life-threatening symptoms but may also have...