Monique M. De Sain-Van Der Velden

Utrecht, UT 3584EA, Netherlands

Last Updated: 09/26/2026

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Found 48 publications

Refining MMA Screening in the Dutch Newborn Screening Program: Lessons from Vitamin B12 Deficiency and Genetic Cases.

Refining MMA Screening in the Dutch Newborn Screening Program: Lessons from Vitamin B12 Deficiency and Genetic Cases.

Journal: International journal of neonatal screening
Published: May 25, 2026

Next-generation newborn screening: feasibility of combined genetic and biochemical testing for 95 treatable inherited metabolic disorders.

Next-generation newborn screening: feasibility of combined genetic and biochemical testing for 95 treatable inherited metabolic disorders.

Journal: Metabolomics : Official journal of the Metabolomic Society
Published: April 07, 2026

Too Early to Tell? Balancing Diagnostic Accuracy of Newborn Screening for Propionic Acidemia Versus a Timely Referral.

Too Early to Tell? Balancing Diagnostic Accuracy of Newborn Screening for Propionic Acidemia Versus a Timely Referral.

Journal: International journal of neonatal screening
Published: November 24, 2025

Reducing False Positives in Newborn Screening: The Role of Perinatal Factors in the Dutch NBS Program.

Reducing False Positives in Newborn Screening: The Role of Perinatal Factors in the Dutch NBS Program.

Journal: Metabolites
Published: August 01, 2025

Myopathic Symptoms and Exercise Tolerance in Adolescent Patients With Long-Chain Fatty Acid Oxidation Disorders.

Myopathic Symptoms and Exercise Tolerance in Adolescent Patients With Long-Chain Fatty Acid Oxidation Disorders.

Journal: Journal of inherited metabolic disease
Published: March 22, 2025

Rethinking Newborn Screening: A Case of GALM Deficiency.

Rethinking Newborn Screening: A Case of GALM Deficiency.

Journal: International journal of neonatal screening
Published: March 14, 2025

Urinary Catecholamines Predict Relapse During Complete Remission in High-Risk Neuroblastoma.

Urinary Catecholamines Predict Relapse During Complete Remission in High-Risk Neuroblastoma.

Journal: JCO precision oncology
Published: February 21, 2025

Profiling and semi-quantitation of urine sulfatides by UHPLC-Orbitrap-HRMS.

Profiling and semi-quantitation of urine sulfatides by UHPLC-Orbitrap-HRMS.

Journal: Analytica chimica acta
Published: September 12, 2024

Validation of an LC-MS/MS method for urinary homovanillic and vanillylmandelic ACIDS and application to the diagnosis of neuroblastoma.

Validation of an LC-MS/MS method for urinary homovanillic and vanillylmandelic ACIDS and application to the diagnosis of neuroblastoma.

Journal: Journal of mass spectrometry and advances in the clinical lab
Published: March 13, 2024

Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.

Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.

Journal: International journal of neonatal screening
Published: January 22, 2024

UPLC-Orbitrap-HRMS application for analysis of plasma sterols.

UPLC-Orbitrap-HRMS application for analysis of plasma sterols.

Journal: Analytica chimica acta
Published: September 20, 2023

Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports.

Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports.

Journal: Genetics in medicine open
Published: September 18, 2023
Showing 1-12 of 48

Last Updated: 09/26/2026