Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs
Schielen, Peter C J I, Kemper, Evelien A, Gelb, Michael H
Published in International journal of neonatal screening (01.06.2017)
Published in International journal of neonatal screening (01.06.2017)
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Second-tier Testing for 21-Hydroxylase Deficiency in the Netherlands: A Newborn Screening Pilot Study
Stroek, Kevin, Ruiter, An, van der Linde, Annelieke, Ackermans, Mariette, Bouva, Marelle J, Engel, Henk, Jakobs, Bernadette, Kemper, Evelien A, van den Akker, Erica L T, van Albada, Mirjam E, Bocca, Gianni, Finken, Martijn J J, Hannema, Sabine E, Mieke Houdijk, E C A, van der Kamp, Hetty J, van Tellingen, Vera, Paul van Trotsenburg, A S, Zwaveling-Soonawala, Nitash, Bosch, Annet M, de Jonge, Robert, Heijboer, Annemieke C, Claahsen-van der Grinten, Hedi L, Boelen, Anita
Published in The journal of clinical endocrinology and metabolism (01.11.2021)
Published in The journal of clinical endocrinology and metabolism (01.11.2021)
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Parents’ Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands
Blom, Maartje, Bredius, Robbert G. M., Jansen, Marleen E., Weijman, Gert, Kemper, Evelien A., Vermont, Clementien L., Hollink, Iris H. I. M., Dik, Willem A., van Montfrans, Joris M., van Gijn, Mariëlle E., Henriet, Stefanie S., van Aerde, Koen J., Koole, Wouter, Lankester, Arjan C., Dekkers, Eugènie H. B. M., Schielen, Peter C. J. I., de Vries, Martine C., Henneman, Lidewij, van der Burg, Mirjam
Published in Journal of clinical immunology (01.01.2021)
Published in Journal of clinical immunology (01.01.2021)
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Introducing Newborn Screening for Severe Combined Immunodeficiency (SCID) in the Dutch Neonatal Screening Program
Blom, Maartje, Bredius, Robbert, Weijman, Gert, Dekkers, Eugènie, Kemper, Evelien, van den Akker-van Marle, M., van der Ploeg, Catharina, van der Burg, Mirjam, Schielen, Peter
Published in International journal of neonatal screening (01.12.2018)
Published in International journal of neonatal screening (01.12.2018)
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Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations
Wiltink, Rachel C, Kruijshaar, Michelle E, van Minkelen, Rick, Onkenhout, Willem, Verheijen, Frans W, Kemper, Evelien A, van Spronsen, Francjan J, van der Ploeg, Ans T, Niezen-Koning, Klary E, Saris, Jasper J, Williams, Monique
Published in European journal of human genetics : EJHG (01.10.2016)
Published in European journal of human genetics : EJHG (01.10.2016)
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Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization
Stroek, Kevin, Boelen, Anita, Bouva, Marelle J., De Sain‐van der Velden, Monique, Schielen, Peter C. J. I., Maase, Rose, Engel, Henk, Jakobs, Bernadette, Kluijtmans, Leo A. J., Mulder, Margot F., Rubio‐Gozalbo, M. E., Spronsen, Francjan J., Visser, Gepke, Vries, Maaike C., Williams, Monique, Heijboer, Annemieke C., Kemper, Evelien A., Bosch, Annet M.
Published in JIMD reports (01.07.2020)
Published in JIMD reports (01.07.2020)
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Implementing neonatal screening for haemoglobinopathies in the Netherlands
Bouva, Marelle J, Mohrmann, Karin, Brinkman, Henri B J M, Kemper-Proper, Evelien A, Elvers, Bert, Loeber, J Gerard, Verheul, Francesco E A M, Giordano, Piero C
Published in Journal of medical screening (01.06.2010)
Published in Journal of medical screening (01.06.2010)
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A case of consistent discrepancies between urine and blood human chorionic gonadotropin measurements
Albersen, Arjan, Kemper-Proper, Evelien, Thelen, Marc H.M., Kianmanesh Rad, Noush A., Hoedemaeker, Robert F., Boesten, Lianne S.M.
Published in Clinical chemistry and laboratory medicine (01.06.2011)
Published in Clinical chemistry and laboratory medicine (01.06.2011)
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