Timing of cerebral damage in molybdenum cofactor deficiency
Elise A. Ferreira, Floris C. Hofstede, Hanneke A. Haijes-Siepel, Klaske D. Lichtenbelt, Lou Pistorius, Monique G.M. de Sain-van der Velden, Peter G.J. Nikkels, Maarten H. Lequin, Linda S. de Vries, Saskia N. van der Crabben, Peter M. van Hasselt
Genetics in Medicine Open, 2024, vol. 2
Future of Dutch NGS-Based Newborn Screening
Gea Kiewiet, Dineke Westra, Eddy N de Boer, Emma van Berkel, Tom G J Hofste, Martine van Zweeden, Ronny C Derks, Nico F A Leijsten, Martina H A Ruiterkamp-Versteeg, Bart Charbon, Lennart Johansson, Janneke Bos-Kruizinga, Inge J Veenstra, Monique G M de Sain-van der Velden, Els Voorhoeve, M Rebecca Heiner-Fokkema, Francjan van Spronsen, Birgit Sikkema-Raddatz, Marcel Nelen
International Journal of Neonatal Screening, 2024, vol. 10
Newborn screening for primary carnitine deficiency
Loek Crefcoeur, Sacha Ferdinandusse, Saskia N van der Crabben, Eugènie Dekkers, Sabine A Fuchs, Hidde Huidekoper, Mirian Janssen, Janneke Langendonk, Rose Maase, Monique de Sain, Estela Rubio, Francjan J van Spronsen, Frédéric Maxime Vaz, Rendelien Verschoof, Maaike de Vries, Frits Wijburg, Gepke Visser, Mirjam Langeveld
Journal of Medical Genetics, 2023, vol. 60, p.1177-1185
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening
Abigail Veldman, M B Gea Kiewiet, Dineke Westra, Annet M Bosch, Marion M G Brands, René I F M de Coo, Terry G J Derks, Sabine A Fuchs, Johanna M P van den Hout, Hidde H Huidekoper, Leo A J Kluijtmans, Klaas Koop, Charlotte M A Lubout, Margaretha F Mulder, Bianca Panis, M Estela Rubio-Gozalbo, Monique G de Sain-van der Velden, Jaqueline Schaefers, Andrea B Schreuder, Gepke Visser, Ron A Wevers, Frits A Wijburg, M Rebecca Heiner-Fokkema, Francjan J van Spronsen
International Journal of Neonatal Screening, 2023, vol. 9
