Personal profile
External positions
coordinator Swiss-Reg NMD, Institute of Social and Preventive Medicine (Bern)
Oct 2018 → 2019
senior scientist, Centre for Infections
Jun 2006 → Dec 2011
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Collaborations and top research areas from the last five years
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Real-world evidence for Pompe disease remains fragmented. Comment on “A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem” by Klein et al.
Kruijshaar, M. E., House, T., Schoser, B., Laforêt, P., Theunissen, M. T. M., Wenninger, S., Hundsberger, T., Diaz-Manera, J., van der Ploeg, A. T. & van der Beek, N. A. M. E., 14 Feb 2025, In: Orphanet Journal of Rare Diseases. 20, 1, 74.Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review
Open AccessFile21 Downloads (Pure) -
Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024
Schoser, B., van der Beek, N. A. M. E., Broomfield, A., Brusse, E., Diaz-Manera, J., Hahn, A., Hundsberger, T., Kornblum, C., Kruijshaar, M., Laforet, P., Mengel, E., Mongini, T., Orlikowski, D., Parenti, G., Pijnappel, W. W. M. P., Roberts, M., Scherer, T., Toscano, A., Vissing, J. & van den Hout, J. M. P. & 3 others, , Sept 2024, In: European Journal of Neurology. 31, 9, e16383.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile25 Citations (Scopus)38 Downloads (Pure) -
Establishing how much improvement in lung function and distance walked is clinically important for adult patients with Pompe disease
Lika, A., Andrinopoulou, E. R., van der Beek, N. A. M. E., Rizopoulos, D., van der Ploeg, A. T. & Kruijshaar, M. E., May 2024, In: European Journal of Neurology. 31, 5, e16223.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile8 Citations (Scopus)53 Downloads (Pure) -
The impact of COVID-19 infection, the pandemic and its associated control measures on patients with Pompe disease
Theunissen, M. T. M., van den Elsen, R. M., House, T. L., Crittenden, B., van Doorn, P. A., van der Ploeg, A. T., Kruijshaar, M. E. & van der Beek, N. A. M. E., Jan 2024, In: Journal of Neurology. 271, 1, p. 32-45 14 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile4 Citations (Scopus)70 Downloads (Pure) -
Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions
Ditters, I. A. M., van Kooten, H. A., van der Beek, N. A. M. E., Hardon, J. F., Ismailova, G., Brusse, E., Kruijshaar, M. E., van der Ploeg, A. T., van den Hout, J. M. P. & Huidekoper, H. H., Sept 2023, In: BioDrugs. 37, 5, p. 685-698 14 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile9 Citations (Scopus)79 Downloads (Pure)
Datasets
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Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in adult patients with Pompe disease
Kanters, T. A. (Creator), Van Der Ploeg, A. T. (Contributor), Kruijshaar, M. E. (Creator), Rizopoulos, D. (Creator), Redekop, W. K. (Contributor), Rutten-Van Mólken, M. P. M. H. (Contributor) & Hakkaart-Van Roijen, L. (Contributor), 2017
DOI: 10.6084/m9.figshare.c.3954010.v1, https://figshare.com/collections/Cost-effectiveness_of_enzyme_replacement_therapy_with_alglucosidase_alfa_in_adult_patients_with_Pompe_disease/3954010/1
Dataset
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A conceptual disease model for adult Pompe disease
Kanters, T. A. (Creator), Redekop, W. K. (Contributor), Rutten-Van Mölken, M. P. M. H. (Contributor), Kruijshaar, M. E. (Creator), Güngör, D. (Contributor), Van Der Ploeg, A. T. (Contributor) & Hakkaart, L. (Creator), 2015
DOI: 10.6084/m9.figshare.c.3605060.v1, https://figshare.com/collections/A_conceptual_disease_model_for_adult_Pompe_disease/3605060/1
Dataset