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Evaluation of Newborn Screening for Diseases Using C5-OH as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of C5-OH Screening in the Netherlands
Aukes, R., Albersen, M., Boelen, A., Kluijtmans, L. A. J., Visser, W. F., de Vries, M. C., Bosch, A. M. & the C5-OH NBS Working Group, 1 Sept 2025, In: Journal of inherited metabolic disease. 48, 5, e70088.Research output: Contribution to journal › Article › Academic › peer-review
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Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability
Veldman, A., Sikkema-Raddatz, B., Derks, T. G. J., van Karnebeek, C. D. M., Kiewiet, M. B. G., Mulder, M. F., Nelen, M. R., Rubio-Gozalbo, M. E., Sinke, R. J., de Sain-van der Velden, M. G., Visser, G., de Vries, M. C., Westra, D., Williams, M., Wevers, R. A., Heiner-Fokkema, M. R. & van Spronsen, F. J., 1 Mar 2025, In: International Journal of Neonatal Screening. 11, 1, 1.Research output: Contribution to journal › Article › Academic › peer-review
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A case of lipoprotein glomerulopathy due to the pathogenic APOE Las Vegas variant c.509C>A: p. (Ala170Asp)
Mulder, J. W. C. M., ‘t Hart, N., Mulder, M. T., Zuurbier, L. & Roeters van Lennep, J. E., 1 Jan 2025, In: Journal of clinical lipidology. 19, 1, p. 183-187 5 p.Research output: Contribution to journal › Article › Academic › peer-review
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