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- Nadine A M E van der Beek, Carine I. van Capelle, +6 authors Henk J. Stam
- Molecular genetics and metabolism
- 2011
Respiratory insufficiency is a serious threat to patients with Pompe disease, a neuromuscular disorder caused by lysosomal acid alpha-glucosidase deficiency. Innovative therapeutic options which may… (More)
- Carine I. van Capelle, Nadine A M E van der Beek, +10 authors A T van der Ploeg
- Neuromuscular disorders : NMD
- 2010
Pompe disease is a rare neuromuscular disorder caused by deficiency of acid α-glucosidase. Treatment with recombinant human α-glucosidase recently received marketing approval based on prolonged… (More)
- Juna M. de Vries, Nadine A M E van der Beek, +13 authors Ans T. van der Ploeg
- Orphanet journal of rare diseases
- 2012
BACKGROUND
Enzyme replacement therapy (ERT) in adults with Pompe disease, a progressive neuromuscular disorder, is of promising but variable efficacy. We investigated whether it alters the course of… (More)
- Marian A. Kroos, Robert J. Pomponio, +10 authors Arnold J. J. Reuser
- Neurology
- 2007
BACKGROUND
Pompe disease (acid maltase deficiency, glycogen storage disease type II; OMIM 232300) is an autosomal recessive lysosomal storage disorder characterized by acid alpha-glucosidase… (More)
- Nadine A M E van der Beek, M. L. C. Hagemans, +4 authors John H. J. Wokke
- Neuromuscular disorders : NMD
- 2009
To determine the rate of disease progression in patients with late-onset Pompe disease, we collected longitudinal data on pulmonary function and skeletal muscle strength in 16 patients whose symptoms… (More)
- Osama I I Soliman, Nadine A M E van der Beek, +6 authors M. L. Geleijnse
- Journal of internal medicine
- 2008
BACKGROUND
Glycogen storage disease type II or Pompe disease is a neuromuscular disorder caused by deficiency of lysosomal acid alpha- glucosidase. Classic infantile Pompe disease results in massive… (More)
- Nadine A M E van der Beek, Osama I I Soliman, +7 authors A T van der Ploeg
- Journal of the neurological sciences
- 2008
BACKGROUND AND OBJECTIVE
Pompe disease is an inherited metabolic disorder caused by deficiency of acid alpha-glucosidase. All affected neonates have a severe hypertrophic cardiomyopathy, leading to… (More)
- Stephan C. A. Wens, Carin M van Gelder, +6 authors Esther Brusse
- Orphanet journal of rare diseases
- 2013
BACKGROUND
Pompe disease has a broad clinical spectrum, in which the phenotype is partially explained by the genotype. The aim of this study was to describe phenotypical variation among siblings with… (More)
- Laurike Harlaar, Pierluigi Ciet, +6 authors Pieter Antoon van Doorn
- Neuromuscular disorders : NMD
- 2017
Respiratory muscle weakness frequently occurs in patients with neuromuscular disease. Measuring respiratory function with standard pulmonary function tests provides information about the contribution… (More)
- Carin M van Gelder, Esther Poelman, +4 authors A T van der Ploeg
- Journal of Inherited Metabolic Disease
- 2015
Though enzyme-replacement therapy (ERT) with alglucosidase alfa has significantly improved the prospects for patients with classic infantile Pompe disease, some 50 % of treated infants do not survive… (More)