Public support for neonatal screening for Pompe disease, a broad-phenotype condition

by Weinreich Stephanie, Rigter Tessel, van El Carla, Dondorp Wybo, Kostense Pieter, van der Ploeg Ans T, Reuser Arnold JJ, Cornel Martina, Hagemans Marloes
Published 2012-03-01

Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy

by Reuser Arnold JJ, Hop Wim CJ, de Vries Juna M, Güngör Deniz, van Doorn Pieter A, van der Ploeg Ans T, Hagemans Marloes LC
Published 2011-06-01

Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study

by de Vries Juna M, van der Beek Nadine AME, Hop Wim CJ, Karstens Francois PJ, Wokke John H, de Visser Marianne, van Engelen Baziel GM, Kuks Jan BM, van der Kooi Anneke J, Notermans Nicolette C, Faber Catharina G, Verschuuren Jan JGM, Kruijshaar Michelle E, Reuser Arnold JJ, van Doorn Pieter A, van der Ploeg Ans T
Published 2012-09-01

Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study

by van der Beek Nadine AME, de Vries Juna M, Hagemans Marloes LC, Hop Wim CJ, Kroos Marian A, Wokke John HJ, de Visser Marianne, van Engelen Baziel GM, Kuks Jan BM, van der Kooi Anneke J, Notermans Nicolette C, Faber Karin G, Verschuuren Jan JGM, Reuser Arnold JJ, van der Ploeg Ans T, van Doorn Pieter A
Published 2012-11-01

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

by Scarpa Maurizio, Almássy Zsuzsanna, Beck Michael, Bodamer Olaf, Bruce Iain A, De Meirleir Linda, Guffon Nathalie, Guillén-Navarro Encarna, Hensman Pauline, Jones Simon, Kamin Wolfgang, Kampmann Christoph, Lampe Christina, Lavery Christine A, Leão Teles Elisa, Link Bianca, Lund Allan M, Malm Gunilla, Pitz Susanne, Rothera Michael, Stewart Catherine, Tylki-Szymańska Anna, van der Ploeg Ans, Walker Robert, Zeman Jiri, Wraith James E
Published 2011-11-01