Jan J. A. van den Dorpel

A genetic modifier of symptom onset in Pompe disease

Atze J. Bergsma, Stijn L.M. in ‘t Groen, Jan J. A. van den Dorpel et al. · EBioMedicine · 2019 · 45 citations · Full text

Effects of higher and more frequent dosing of alglucosidase alfa and immunomodulation on long‐term clinical outcome of classic infantile Pompe patients

Esther Poelman, Jan J. A. van den Dorpel, Marianne Hoogeveen‐Westerveld et al. · Journal of Inherited Metabolic Disease · 2020 · 34 citations · Full text

Neurofilament Light and Its Association With CNS Involvement in Patients With Classic Infantile Pompe Disease

Maarten J. Mackenbach, Eline A.J. Willemse, Jan J. A. van den Dorpel et al. · Neurology · 2023 · 20 citations · Full text

Discontinuation of enzyme replacement therapy in adults with Pompe disease: Evaluating the European POmpe Consortium stop criteria

Harmke A. van Kooten, Laurike Harlaar, Nadine A. M. E. van der Beek et al. · Neuromuscular Disorders · 2019 · 18 citations · Full text

Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning

Jan J. A. van den Dorpel, Maarten J. Mackenbach, Marjolein H. G. Dremmen et al. · Journal of Inherited Metabolic Disease · 2024 · 16 citations · Full text

Neuropsychology, Developmental Cognitive Neuroscience, Brain Development +26