Long-term benefit of enzyme replacement therapy in Pompe disease: A 5-year prospective study von Kuperus, Esther, Kruijshaar, Michelle E, Wens, Stephan C.A, de Vries, Juna M, Favejee, Marein M, van der Meijden, Jan C, Rizopoulos, Dimitris, Brusse, Esther, van Doorn, Pieter A, van der Ploeg, Ans T, van der Beek, Nadine A.M.E

Volltext

Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity von Niño, Monica Y., in 't Groen, Stijn L.M., Bergsma, Atze J., Beek, Nadine A.M.E., Kroos, Marian, Hoogeveen‐Westerveld, Marianne, Ploeg, Ans T., Pijnappel, W.W.M. Pim

Volltext

Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease von Harlaar, Laurike, Hogrel, Jean-Yves, Perniconi, Barbara, Kruijshaar, Michelle E, Rizopoulos, Dimitris, Taouagh, Nadjib, Canal, Aurélie, Brusse, Esther, van Doorn, Pieter A, van der Ploeg, Ans T, Laforêt, Pascal, van der Beek, Nadine A M E

Volltext

Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain von Ebbink, Berendine J, Poelman, Esther, Aarsen, Femke K, Plug, Iris, Régal, Luc, Muentjes, Carsten, Beek, Nadine A M E, Lequin, Maarten H, Ploeg, Ans T, Hout, Johanna M P

Volltext

Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study von Ditters, Imke A M, van der Beek, Nadine A M E, Brusse, Esther, van der Ploeg, Ans T, van den Hout, Johanna M P, Huidekoper, Hidde H

Volltext

The impact of COVID-19 infection, the pandemic and its associated control measures on patients with Pompe disease von Theunissen, Maudy T. M., van den Elsen, Renee M., House, Tiffany L., Crittenden, Brad, van Doorn, Pieter A., van der Ploeg, Ans T., Kruijshaar, Michelle E., van der Beek, Nadine A. M. E.

Volltext

Long-term benefits of physical activity in adult patients with late onset Pompe disease: a retrospective cohort study with 10 years of follow-up von Ismailova, Gamida, Wagenmakers, Margreet A. E. M, Brusse, Esther, van der Ploeg, Ans T, Favejee, Marein M, van der Beek, Nadine A. M. E, van den Berg, Linda E. M

Volltext

Positive association between physical outcomes and patient-reported outcomes in late-onset Pompe disease: a cross sectional study von Yuan, Meng, Andrinopoulou, Eleni-Rosalina, Kruijshaar, Michelle E, Lika, Aglina, Harlaar, Laurike, van der Ploeg, Ans T, Rizopoulos, Dimitris, van der Beek, Nadine A. M. E

Volltext

Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study von van der Beek, Nadine A M E, de Vries, Juna M, Hagemans, Marloes L C, Hop, Wim C J, Kroos, Marian A, Wokke, John H J, de Visser, Marianne, van Engelen, Baziel G M, Kuks, Jan B M, van der Kooi, Anneke J, Notermans, Nicolette C, Faber, Karin G, Verschuuren, Jan J G M, Reuser, Arnold J J, van der Ploeg, Ans T, van Doorn, Pieter A

Volltext

Start, switch and stop (triple‐S) criteria for enzyme replacement therapy of late‐onset Pompe disease: European Pompe Consortium recommendation update 2024 von Schoser, Benedikt, Beek, Nadine A. M. E., Broomfield, Alexander, Brusse, Esther, Diaz‐Manera, Jordi, Hahn, Andreas, Hundsberger, Thomas, Kornblum, Cornelia, Kruijshaar, Michelle, Laforet, Pascal, Mengel, Eugen, Mongini, Tiziana, Orlikowski, David, Parenti, Giancarlo, Pijnappel, W. W. M. Pim, Roberts, Mark, Scherer, Thomas, Toscano, Antonio, Vissing, John, Hout, Johanna M. P., Doorn, Pieter A., Wenninger, Stephan, Ploeg, Ans T.

Volltext

Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy von van der Meijden, Jan C., Kruijshaar, Michelle E., Harlaar, Laurike, Rizopoulos, Dimitris, van der Beek, Nadine A. M. E., van der Ploeg, Ans T.

Volltext

Association between changes in pulmonary function and in patient reported outcomes during enzyme therapy of adult patients with late‐onset Pompe disease von Lika, Aglina, Andrinopoulou, Eleni‐Rosalina, Beek, Nadine A. M. E., Rizopoulos, Dimitris, Ploeg, Ans T., Kruijshaar, Michelle E.

Volltext

MRI changes in diaphragmatic motion and curvature in Pompe disease over time von Harlaar, Laurike, Ciet, Pierluigi, van Tulder, Gijs, van Kooten, Harmke A., van der Beek, Nadine A. M. E., Brusse, Esther, de Bruijne, Marleen, Tiddens, Harm A. W. M., van der Ploeg, Ans T., van Doorn, Pieter A.

Volltext

Effects of higher and more frequent dosing of alglucosidase alfa and immunomodulation on long‐term clinical outcome of classic infantile Pompe patients von Poelman, Esther, Dorpel, Jan J. A., Hoogeveen‐Westerveld, Marianne, Hout, Johanna M. P., Giessen, Lianne J., Beek, Nadine A. M. E., Pijnappel, W. W. M. Pim, Ploeg, Ans T.

Volltext

Diffusion tensor imaging of the brain in Pompe disease von van den Dorpel, Jan J. A., Dremmen, Marjolein H. G., van der Beek, Nadine A. M. E., Rizopoulos, Dimitris, van Doorn, Pieter A., van der Ploeg, Ans T., Muetzel, Ryan L., van den Hout, Johanna M. P.

Volltext

Mapping the electrostatic force field of single molecules from high-resolution scanning probe images von Hapala, Prokop, Švec, Martin, Stetsovych, Oleksandr, van der Heijden, Nadine J., Ondráček, Martin, van der Lit, Joost, Mutombo, Pingo, Swart, Ingmar, Jelínek, Pavel

Volltext

Establishing how much improvement in lung function and distance walked is clinically important for adult patients with Pompe disease von Lika, Aglina, Andrinopoulou, Eleni-Rosalina, van der Beek, Nadine A M E, Rizopoulos, Dimitris, van der Ploeg, Ans T, Kruijshaar, Michelle E

Volltext

Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism von Canibano‐Fraile, Rodrigo, Harlaar, Laurike, Santos, Carlos A., Hoogeveen‐Westerveld, Marianne, Demmers, Jeroen A. A., Snijders, Tim, Lijnzaad, Philip, Verdijk, Robert M., Beek, Nadine A. M. E., Doorn, Pieter A., Ploeg, Ans T., Brusse, Esther, Pijnappel, W. W. M. Pim, Schaaf, Gerben J.

Volltext

Enzyme replacement therapy reduces the risk for wheelchair dependency in adult Pompe patients von van der Meijden, Jan C, Kruijshaar, Michelle E, Rizopoulos, Dimitris, van Doorn, Pieter A, van der Beek, Nadine A M E, van der Ploeg, Ans T

Volltext

Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience von Niño, Monica Y, Wijgerde, Mark, de Faria, Douglas Oliveira Soares, Hoogeveen-Westerveld, Marianne, Bergsma, Atze J, Broeders, Mike, van der Beek, Nadine A M E, van den Hout, Hannerieke J M, van der Ploeg, Ans T, Verheijen, Frans W, Pijnappel, W W M Pim

Volltext