A. V. D. Ploeg

Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease

G. Schaaf, W. Pijnappel, G. Parenti, 2018, Acta Neuropathologica Communications.

Pain in adult patients with Pompe disease: a cross-sectional survey.

B. Schoser, N. Karabul, M. Kruijshaar, 2013, Molecular genetics and metabolism.

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.

Public suPPoRT foR neonaTal scReeninG foR PomPe disease : a bRoad-PhenoTyPe condiTion 5

W. Dondorp, T. Rigter, A. Reuser, 2014 .

An investigation of the properties and possible clinical significance of the lysosomal α‐glucosidase GAA * 2 allele

D. Swallow, A. Reuser, M. Kroos, 1989, Annals of human genetics.

Identification and Characterization of Aberrant GAA Pre‐mRNA Splicing in Pompe Disease Using a Generic Approach

D. Halley, M. Kroos, W. Pijnappel, 2015, Human mutation.

Efficacy and safety results of the avalglucosidase alfa phase 3 COMET trial in late-onset Pompe disease patients

Y. Chien, B. Schoser, S. Illarioshkin, 2021, Molecular Genetics and Metabolism.

Childhood Pompe disease: clinical spectrum and genotype in 31 patients

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

Exercise training in adults with Pompe disease: the effects on pain, fatigue, and functioning.

J. Bussmann, S. Praet, M. Kruijshaar, 2015, Archives of physical medicine and rehabilitation.