Pompe disease in children and adults: natural course, disease severity and impact on daily life; results from an international patient survey
(De ziekte van Pompe bij kinderen en volwassenen: natuurlijk beloop, ernst van de ziekte en invloed op het dagelijks leven; resultaten van een internationale patiëntensurvey)
2006-06-21
Doctoral Thesis
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Pompe disease is a lysosomal storage disorder caused by deficiency of the enzyme acid alpha-glucosidase and mainly characterized by progressive skeletal muscle weakness. Research on this so far untreatable disease has long been directed towards unraveling the pathophysiological mechanisms and the development of a causal treatment. At the advent of enzyme replacement therapy, the research described in this thesis was intended to include the patientâ €™s perspective in the assessment of the consequences of the disease. The aims were to map out the health status of patients with non- classic or late-onset Pompe disease, to provide more insight in the natural course and rate of progression on a group level, and to evaluate the use of specific self-report measurement scales. These studies form the basis for further follow-up of patients before and after the start of therapy, and are examples of a successful cooperation between patients, patient organizations and universities.
Heijden, Prof. Dr. A.J. van der (promotor)
Princess Beatrix Fund
International Pompe Association and Genzyme Corp.
- disease
- patient
- pompe
- pompe disease
- van der ploeg
- scale
- study
- reuser aj
- score
- muscle
- late-onset pompe disease
- health
- acid maltase deficiency
- activity
- fatigue
- enzyme replacement therapy
- deficiency
- van doorn pa
- reuser
- chapter
