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N. V. D. van der Beek · SciRah

Researcher profile · Semantic Scholar

N. V. D. van der Beek

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N. V. D. van der Beek — researcher profile on SciRah

h-index: 27
Works: 128
Citations: 2,884

Most-cited papers

Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study
N. V. D. van der Beek, J. D. de Vries, M. Hagemans, W. Hop +12 more
2012Orphanet Journal of Rare Diseases139 citations Open access
Semantic Scholar
Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease
L. Harlaar, J. Hogrel, B. Perniconi, M. Kruijshaar +8 more
2019Neurology110 citations Open access
Semantic Scholar
Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study
J. D. de Vries, N. V. D. van der Beek, W. Hop, Francois P. J. Karstens +12 more
2012Orphanet Journal of Rare Diseases106 citations Open access
Semantic Scholar
Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease.
N. V. D. van der Beek, C. V. van Capelle, K. I. van der Velden-van Etten, W. Hop +5 more
2011Molecular Genetics and Metabolism99 citations
Semantic Scholar
Effects of a higher dose of alglucosidase alfa on ventilator-free survival and motor outcome in classic infantile Pompe disease: an open-label single-center study
C. V. van Gelder, Esther Poelman, I. Plug, M. Hoogeveen-Westerveld +3 more
2016Journal of Inherited Metabolic Disease78 citations Open access
Semantic Scholar
Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants
M. Kroos, M. Hoogeveen-Westerveld, H. Michelakakis, R. Pomponio +43 more
2012Human Mutation78 citations
Semantic Scholar
Long-term benefit of enzyme replacement therapy in Pompe disease
E. Kuperus, M. Kruijshaar, S. Wens, J. D. de Vries +7 more
2017Neurology71 citations
Semantic Scholar
The Rasch-built Pompe-specific activity (R-PAct) scale.
N. V. D. van der Beek, M. Hagemans, A. T. van der Ploeg, P. A. van Doorn +1 more
2013Neuromuscular Disorders64 citations Open access
Semantic Scholar
Human Mutation
Monica Y. Niño, S. L. M. In, T. Groen, Atze J. Bergsma +4 more
201954 citations
Semantic Scholar
Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy
J. D. de Vries, E. Kuperus, M. Hoogeveen-Westerveld, M. Kroos +8 more
2016Genetics in Medicine54 citations Open access
Semantic Scholar
Phenotypical variation within 22 families with Pompe disease
S. Wens, C. V. van Gelder, M. Kruijshaar, J. D. de Vries +5 more
2013Orphanet Journal of Rare Diseases54 citations Open access
Semantic Scholar
A genetic modifier of symptom onset in Pompe disease
Atze J. Bergsma, Stijn L. M. In 't Groen, J. V. D. van den Dorpel, H. V. D. van den Hout +11 more
2019EBioMedicine47 citations Open access
Semantic Scholar
Start, switch and stop (triple‐S) criteria for enzyme replacement therapy of late‐onset Pompe disease: European Pompe Consortium recommendation update 2024
B. Schoser, N. V. D. van der Beek, Alexander Broomfield, Esther Brusse +19 more
2024European Journal of Neurology32 citations Open access
Semantic Scholar
Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy
J. C. van der Meijden, M. Kruijshaar, L. Harlaar, D. Rizopoulos +2 more
2018Journal of Inherited Metabolic Disease32 citations Open access
Semantic Scholar
Effects of higher and more frequent dosing of alglucosidase alfa and immunomodulation on long‐term clinical outcome of classic infantile Pompe patients
Esther Poelman, J. V. D. van den Dorpel, M. Hoogeveen-Westerveld, J. V. D. van den Hout +4 more
2020Journal of Inherited Metabolic Disease30 citations Open access
Semantic Scholar
Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience
Monica Y. Niño, M. Wijgerde, D. O. S. de Faria, M. Hoogeveen-Westerveld +7 more
2020European Journal of Human Genetics29 citations Open access
Semantic Scholar
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)
Giancarlo Parenti, Simona Fecarotta, Marianna Alagia, F. Attaianese +64 more
2024Orphanet Journal of Rare Diseases28 citations Open access
Semantic Scholar
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders
A. Atalaia, D. Wandrei, Nawel Lalout, R. Thompson +34 more
2024Orphanet Journal of Rare Diseases23 citations Open access
Semantic Scholar
Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism
Rodrigo Canibano-Fraile, L. Harlaar, C. A. D. Dos Santos, M. Hoogeveen-Westerveld +10 more
2022Journal of Inherited Metabolic Disease22 citations Open access
Semantic Scholar
Clinical insights in enzyme replacement therapy for metabolic storage disorders: lessons from Pompe disease.
N. V. D. van der Beek, Maudy T M Theunissen, J. V. D. van den Hout, W. Pijnappel +5 more
2025Lancet Neurology19 citations Open access
Semantic Scholar
Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning
J. V. D. van den Dorpel, M. J. Mackenbach, M. H. G. Dremmen, W. M. C. van der Vlugt +6 more
2024Journal of Inherited Metabolic Disease19 citations Open access
Semantic Scholar
Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study
I. Ditters, N. V. D. van der Beek, E. Brusse, A. T. van der Ploeg +2 more
2023Orphanet Journal of Rare Diseases19 citations Open access
Semantic Scholar
Cardiovascular disease in non-classic Pompe disease: A systematic review.
H. V. van Kooten, C. H. A. Roelen, E. Brusse, N. V. D. van der Beek +4 more
2020Neuromuscular Disorders18 citations Open access
Semantic Scholar
Enzyme replacement therapy reduces the risk for wheelchair dependency in adult Pompe patients
J. C. van der Meijden, M. Kruijshaar, D. Rizopoulos, P. A. van Doorn +2 more
2018Orphanet Journal of Rare Diseases18 citations Open access
Semantic Scholar
Neurofilament Light and Its Association With CNS Involvement in Patients With Classic Infantile Pompe Disease
M. Mackenbach, E. Willemse, J. V. D. van den Dorpel, N. V. D. van der Beek +5 more
2023Neurology17 citations Open access
Semantic Scholar
Effect of avalglucosidase alfa on disease-specific and general patient-reported outcomes in treatment-naïve adults with late-onset Pompe disease compared with alglucosidase alfa: Meaningful change analyses from the Phase 3 COMET trial.
Antonio Toscano, L. Pollissard, J. Msihid, N. V. D. van der Beek +9 more
2023Molecular Genetics and Metabolism16 citations Open access
Semantic Scholar
Diaphragmatic dysfunction in neuromuscular disease, an MRI study.
L. Harlaar, P. Ciet, Gijs van Tulder, E. Brusse +7 more
2021Neuromuscular Disorders16 citations Open access
Semantic Scholar
Distal muscle weakness is a common and early feature in long-term enzyme-treated classic infantile Pompe patients
J. V. D. van den Dorpel, Esther Poelman, L. Harlaar, H. V. van Kooten +5 more
2020Orphanet Journal of Rare Diseases16 citations Open access
Semantic Scholar
Positive association between physical outcomes and patient-reported outcomes in late-onset Pompe disease: a cross sectional study
Meng Yuan, E. Andrinopoulou, M. Kruijshaar, Aglina Lika +4 more
2020Orphanet Journal of Rare Diseases14 citations Open access
Semantic Scholar
Discontinuation of enzyme replacement therapy in adults with Pompe disease: Evaluating the European POmpe Consortium stop criteria.
H. V. van Kooten, L. Harlaar, N. V. D. van der Beek, P. A. van Doorn +15 more
2019Neuromuscular Disorders14 citations Open access
Semantic Scholar
The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease
E. Kuperus, J. C. van der Meijden, Stijn L. M. In 't Groen, M. Kroos +8 more
2018PLoS ONE12 citations Open access
Semantic Scholar
Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions
I. Ditters, H. V. van Kooten, N. V. D. van der Beek, Jacqueline F. Hardon +6 more
2023BioDrugs11 citations Open access
Semantic Scholar
Chest MRI to diagnose early diaphragmatic weakness in Pompe disease
L. Harlaar, P. Ciet, Gijs van Tulder, A. Pittaro +8 more
2021Orphanet Journal of Rare Diseases11 citations Open access
Semantic Scholar
Diffusion tensor imaging of the brain in Pompe disease
J. V. D. van den Dorpel, M. H. G. Dremmen, N. V. D. van der Beek, D. Rizopoulos +4 more
2022Journal of Neurology10 citations Open access
Semantic Scholar
MRI changes in diaphragmatic motion and curvature in Pompe disease over time
L. Harlaar, P. Ciet, Gijs van Tulder, H. V. van Kooten +6 more
2022European Radiology10 citations Open access
Semantic Scholar
Fatal Balamuthia mandrillaris Meningoencephalitis in the Netherlands after Travel to The Gambia
N. V. D. van der Beek, C. van Tienen, J. de Haan, J. Roelfsema +6 more
2015Emerging Infectious Diseases10 citations Open access
Semantic Scholar
Establishing how much improvement in lung function and distance walked is clinically important for adult patients with Pompe disease
Aglina Lika, E. Andrinopoulou, N. V. D. van der Beek, D. Rizopoulos +2 more
2024European Journal of Neurology8 citations Open access
Semantic Scholar
Measurement Properties of 2 Novel PROs, the Pompe Disease Symptom Scale and Pompe Disease Impact Scale, in the COMET Study
M. Dimachkie, P. Kishnani, C. Ivanescu, G. Flore +8 more
2023Neurology Clinical Practice7 citations Open access
Semantic Scholar
Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease
H. V. van Kooten, I. Ditters, M. Hoogeveen-Westerveld, E. Jacobs +5 more
2022Orphanet Journal of Rare Diseases7 citations Open access
Semantic Scholar
Enzyme replacement therapies in adults with Pompe disease: from trials to real-world data
N. V. D. van der Beek, Lianne H Potters, B. Schoser
2025Current Opinion in Neurology6 citations Open access
Semantic Scholar
Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review
I. Ditters, H. V. van Kooten, N. V. D. van der Beek, A. T. van der Ploeg +2 more
2023Biomolecules6 citations Open access
Semantic Scholar
Brain glycogen build-up measured by magnetic resonance spectroscopy in classic infantile Pompe disease
C. Najac, N. V. D. van der Beek, V. Boer, Pieter F. van Doorn +4 more
2024Brain Communications5 citations Open access
Semantic Scholar
Is the brain involved in patients with late‐onset Pompe disease?
J. V. D. van den Dorpel, W. V. D. van der Vlugt, M. H. G. Dremmen, R. Muetzel +8 more
2021Journal of Inherited Metabolic Disease5 citations Open access
Semantic Scholar
Defining clinically meaningful thresholds for forced vital capacity in patients with neuromuscular disorders: Lessons learned from the COMET study in Pompe disease
K. I. Berger, C. Ivanescu, J. Msihid, Magali Periquet +7 more
2025Journal of Neuromuscular Diseases4 citations Open access
Semantic Scholar
Long-term benefits of physical activity in adult patients with late onset Pompe disease: a retrospective cohort study with 10 years of follow-up
G. Ismailova, M. Wagenmakers, Esther Brusse, A. T. van der Ploeg +3 more
2023Orphanet Journal of Rare Diseases4 citations Open access
Semantic Scholar
Antibody formation and efficacy of enzyme replacement therapy in adults with Pompe disease: Unlocking long-term insights.
Maudy T M Theunissen, I. Ditters, H. V. van Kooten, P. A. van Doorn +5 more
2026Genetics in Medicine3 citations Open access
Semantic Scholar
Quantification of muscle glycogen distribution in Pompe disease using 7 Tesla 13C NMR spectroscopy
G. H. Beha, M. Stemmerik, V. Boer, A. T. van der Ploeg +7 more
2025Journal of Neurology Neurosurgery & Psychiatry3 citations Open access
Semantic Scholar
Improving outcome measures in late onset Pompe disease: Modified Rasch‐Built Pompe‐Specific Activity scale
H. V. van Kooten, Mike C Horton, S. Wenninger, H. Babačić +15 more
2024European Journal of Neurology3 citations Open access
Semantic Scholar
CO168 Defining Clinically Meaningful Thresholds (CMT) for Forced Vital Capacity (FVC) and Six-Minute Walk Test (6MWT) in Patients with Late-Onset Pompe Disease (LOPD)
K. Berger, C. Ivanescu, J. Msihid, M. Periquet +7 more
2023Value in Health3 citations
Semantic Scholar
The impact of COVID-19 infection, the pandemic and its associated control measures on patients with Pompe disease
Maudy T M Theunissen, R. M. van den Elsen, Tiffany House, B. Crittenden +4 more
2023Journal of Neurology3 citations Open access
Semantic Scholar

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M. Kruijshaar×13
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