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Hemoglobin|January 22, 2005
A confidential inquiry estimating the number of patients affected with sickle cell disease and thalassemia major confirms the need for a prevention strategy in the NetherlandsPiero C Giordano, Marelle J Bouva, Cornelis L HarteveldInternational Journal of Neonatal Screening|October 25, 2024
Comment on Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone. <i>Int. J. Neonatal Screen.</i> 2023, <i>9</i>, 66Marelle J Bouva, Rose E Maase, Ruurd M van ElburgHaematologica|January 26, 2006
Known and new delta globin gene mutations and their diagnostic significanceMarelle J Bouva, Cornelis L Harteveld, Peter van Delft, et al.Hemoglobin|July 15, 2006
Ggamma -37 (A-->T): a new nondeletional hereditary persistence of fetal hemoglobin determinant associated with the rare codon 91 (+T) delta0-thalassemiaMarelle J Bouva, Cornelis L Harteveld, Greet Bakker-Verweij, et al.Haematologica|April 12, 2005
A new polyadenylation site mutation associated with a mild beta-thalassemia phenotypePiero C Giordano, Marelle J Bouva, Peter Van Delft, et al.Molecular Genetics and Metabolism|March 28, 2018
Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening dataKevin Stroek, Marelle J Bouva, Peter C J I Schielen, et al.Archives of Disease in Childhood|August 8, 2025
21-deoxycortisol as a second-tier test in congenital adrenal hyperplasia newborn screening in The Netherlands: two-year evaluationAnouk Olthof, Marelle J Bouva, Hedi L Claahsen-van der Grinten, et al.Journal of Medical Screening|July 28, 2010
Implementing neonatal screening for haemoglobinopathies in the NetherlandsMarelle J Bouva, Karin Mohrmann, Henri B J M Brinkman, et al.International Journal of Neonatal Screening|September 22, 2025
Correction: Kuypers et al. Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide. <i>Int. J. Neonatal Screen.</i> 2024, <i>10</i>, 82Allysa M Kuypers, Marelle J Bouva, J Gerard Loeber, et al.International Journal of Neonatal Screening|December 27, 2024
Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 WorldwideAllysa M Kuypers, Marelle J Bouva, J Gerard Loeber, et al.Pageof 3