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Spierziekten Centrum Nederland

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Dr. Nadine A.M.E. van der Beek
Dr. Nadine A.M.E. van der Beek
Neuroloog

Dr. Nadine A.M.E. van der Beek

Expertises

  • Metabole ziektes
  • Ziekte van Pompe

Locatie

  • Erasmus MC
    Expertisecentrum

    Erasmus MC

    South Holland Meer informatie

Externe links

  • Pompe Center
  • Center for Lysosomal en Metabolic Diseases Clinical Research
  • Neuromuscular Center Erasmus MC
Neuroloog

Dr. Nadine A.M.E. van der Beek

Promotie:
23 Apr 2013, Clinical features, disease course, and effects of enzyme therapy in Pompe disease

I completed my training as a neurologist at the Erasmus MC University Medical Center in Rotterdam in 2014, followed by a specialized trainig in neuromyology in 2018 (Erasmus MC and Hôpital universitaire Pitié-Salpêtrière Paris). As a neurologist, I am involved mainly in the care for adolescent and adult patients with neuromuscular diseases, especially patients with Pompe disease or other metabolic myopathies.

My research focuses on Pompe disease, a rare lysosomal storage disorder, coordinating a nationwide, prospective study in the Netherlands since 2004. My current research focuses on – finding predictive factors for – long-term outcome in children and adults with Pompe disease treated with enzyme-replacement therapy (ERT), the new emerging CNS phenotype in classic infantile patients, and development and validation of new outcome tools.

I am a board member of the European Pompe Consortium (founded in 2014) and by international collaboration our goal is to elucidate the factors underlying the variable disease course and response to treatment in order to establish a better, personalized treatment for all patients with Pompe disease.

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