J. C. van der Meijden

Association of Muscle Strength and Walking Performance in Adult Patients With Pompe Disease

J. Bussmann, D. Rizopoulos, M. Kruijshaar, 2018, Physical therapy.

Long-term benefit of enzyme replacement therapy in Pompe disease

D. Rizopoulos, M. Kruijshaar, E. Brusse, 2017, Neurology.

Childhood Pompe disease: clinical spectrum and genotype in 31 patients

R. Lachmann, M. Kroos, T. Derks, 2016, Orphanet Journal of Rare Diseases.

Hip disease in Mucopolysaccharidoses and Mucolipidoses: a review of mechanisms, interventions and future perspectives.

M. Langeveld, W. Pijnappel, A. T. van der Ploeg, 2020, Bone.

A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI.

M. Langeveld, L. J. van der Giessen, A. T. van der Ploeg, 2017, Molecular genetics and metabolism.

Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure

M. Langeveld, I. Mathijssen, R. Verdijk, 2018, Journal of Inherited Metabolic Disease.

Mucolipidosis type III, a series of adult patients

L. Hoefsloot, M. Langeveld, C. Hollak, 2018, Journal of Inherited Metabolic Disease.

Ten Years of The International Pompe Survey: Patient Reported Outcomes As A Reliable Tool for Studying Treated and Untreated Children and Adults With Non-Classic Pompe Disease.

M. Kruijshaar, D. Güngör, A. T. van der Ploeg, 2015, Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research.

The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease

Miguel Ángel Martínez, D. Rizopoulos, M. Kruijshaar, 2018, PloS one.

Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy

D. Rizopoulos, M. Kruijshaar, A. T. van der Ploeg, 2018, Journal of Inherited Metabolic Disease.

Ten Years of the International Pompe Survey: Patient-Reported Outcomes as a Reliable Tool for Studying Treated and Untreated Children and Adults with Non-Classic Pompe Disease.

M. Kruijshaar, D. Güngör, A. T. van der Ploeg, 2015, Journal of neuromuscular diseases.

Enzyme replacement therapy reduces the risk for wheelchair dependency in adult Pompe patients

D. Rizopoulos, M. Kruijshaar, A. T. van der Ploeg, 2018, Orphanet Journal of Rare Diseases.