Newborn Screening for Sickle Cell Disease in Europe

por Daniel, Yvonne, Elion, Jacques, Allaf, Bichr, Badens, Catherine, Bouva, Marelle J., Brincat, Ian, Cela, Elena, Coppinger, Cathy, de Montalembert, Mariane, Gulbis, Béatrice, Henthorn, Joan, Ketelslegers, Olivier, McMahon, Corrina, Streetly, Allison, Colombatti, Raffaella, Lobitz, Stephan
Publicado 2019

Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns

por Vaz, Frédéric M., Jamal, Youssra, Barto, Rob, Gelb, Michael H., DeBarber, Andrea E., Wevers, Ron A., Nelen, Marcel R., Verrips, Aad, Bootsma, Albert H., Bouva, Marelle J., Kleise, Nick, van der Zee, Walter, He, Tao, Salomons, Gajja S., Huidekoper, Hidde H.
Publicado 2023

Optimizing the Dutch newborn screening for congenital hypothyroidism by incorporating amino acids and acylcarnitines in a machine learning-based model

por Jansen, Heleen I, van Haeringen, Marije, Bouva, Marelle J, den Elzen, Wendy P J, Bruinstroop, Eveline, van der Ploeg, Catharina P B, van Trotsenburg, A S Paul, Zwaveling-Soonawala, Nitash, Heijboer, Annemieke C, Bosch, Annet M, de Jonge, Robert, Hoogendoorn, Mark, Boelen, Anita
Publicado 2023

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

por 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., van Spronsen, Francjan J., Visser, Gepke, de Vries, Maaike C., Williams, Monique, Heijboer, Annemieke C., Kemper, Evelien A., Bosch, Annet M.
Publicado 2020

Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

por Barendsen, Rinse W., Dijkstra, Inge M. E., Visser, Wouter F., Alders, Mariëlle, Bliek, Jet, Boelen, Anita, Bouva, Marelle J., van der Crabben, Saskia N., Elsinghorst, Ellen, van Gorp, Ankie G. M., Heijboer, Annemieke C., Jansen, Mandy, Jaspers, Yorrick R. J., van Lenthe, Henk, Metgod, Ingrid, Mooij, Christiaan F., van der Sluijs, Elise H. C., van Trotsenburg, A. S. Paul, Verschoof-Puite, Rendelien K., Vaz, Frédéric M., Waterham, Hans R., Wijburg, Frits A., Engelen, Marc, Dekkers, Eugènie, Kemp, Stephan
Publicado 2020

Corrigendum: Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

por Barendsen, Rinse W., Dijkstra, Inge M. E., Visser, Wouter F., Alders, Mariëlle, Bliek, Jet, Boelen, Anita, Bouva, Marelle J., van der Crabben, Saskia N., Elsinghorst, Ellen, van Gorp, Ankie G. M., Heijboer, Annemieke C., Jansen, Mandy, Jaspers, Yorrick R. J., van Lenthe, Henk, Metgod, Ingrid, Mooij, Christiaan F., van der Sluijs, Elise H. C., van Trotsenburg, A. S. Paul, Verschoof-Puite, Rendelien K., Vaz, Frédéric M., Waterham, Hans R., Wijburg, Frits A., Engelen, Marc, Dekkers, Eugènie, Kemp, Stephan
Publicado 2021