Rose E. Maase
Bilthoven, UT 3721MA, Netherlands
Last Updated: 09/26/2026
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Found 14 publications
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.
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.
Journal: International journal of neonatal screening
Published: November 24, 2025
Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.
Journal: Journal of inherited metabolic disease
Published: July 15, 2025
Evaluation of the Performance of Newborn Screening for Tyrosinemia Type 1 in The Netherlands: Suggestions for Improvements Using Additional Biomarkers in Addition to Succinylacetone.
Journal: International journal of neonatal screening
Published: April 09, 2025
Comment on Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9, 66.
Journal: International journal of neonatal screening
Published: July 22, 2024
Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots.
Journal: International journal of neonatal screening
Published: May 17, 2023
Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.
Journal: Journal of medical genetics
Published: February 26, 2023
Comment on Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. Int. J. Neonatal Screen. 2022, 8, 20.
Journal: International journal of neonatal screening
Published: January 28, 2023
Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns.
Journal: JIMD reports
Published: August 24, 2022
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.
Journal: Journal of inherited metabolic disease
Published: January 31, 2022
Last Updated: 09/26/2026