I am a neurologist and researcher specializing in neuromuscular diseases, particularly Pompe disease and other metabolic myopathies. I completed my neurology training at Erasmus MC University Medical Center in Rotterdam in 2014, followed by specialized training in neuromyology in 2018 at Erasmus MC and Hôpital universitaire Pitié-Salpêtrière in Paris. My clinical practice focuses on the care of adolescent and adult patients with neuromuscular disorders, with a particular emphasis on Pompe disease.

My research centers on Pompe disease, a rare lysosomal storage disorder. Since 2004, I have coordinated a nationwide prospective study in the Netherlands, aiming to understand the long-term outcomes of enzyme replacement therapy (ERT) in children and adults. This includes investigating predictive factors for treatment response, exploring the emerging central nervous system phenotype in classic infantile patients, and developing and validating new outcome assessment tools to enhance clinical care.

In addition to my clinical and research roles, I am a board member of the European Pompe Consortium, an organization founded in 2014. Through international collaboration, the consortium seeks to identify the factors underlying the variable disease progression and treatment response in Pompe disease. Our ultimate aim is to establish more effective, personalized treatments for all patients with this rare disorder.