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N.A.M.E. van der Beek
Researcher at Erasmus University Rotterdam
Publications - 19
Citations - 674
N.A.M.E. van der Beek is an academic researcher from Erasmus University Rotterdam. The author has contributed to research in topics: Glycogen storage disease type II & Pulmonary function testing. The author has an hindex of 10, co-authored 19 publications receiving 603 citations. Previous affiliations of N.A.M.E. van der Beek include Boston Children's Hospital & Erasmus University Medical Center.
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Journal ArticleDOI
Broad spectrum of Pompe disease in patients with the same c.-32-13T→G haplotype
Marian A. Kroos,Robert J. Pomponio,M.L.C. Hagemans,J. L. M. Keulemans,Maureen G. Phipps,M. DeRiso,Rachel Palmer,M.G.E.M. Ausems,N.A.M.E. van der Beek,O. P. van Diggelen,D. J. J. Halley,A.T. van der Ploeg,Arnold J. J. Reuser +12 more
TL;DR: Patients with the same c.-32-13T→G haplotype may manifest first symptoms at different ages, indicating that secondary factors may substantially influence the clinical course of patients with this mutation.
Journal ArticleDOI
Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease
N.A.M.E. van der Beek,N.A.M.E. van der Beek,M.L.C. Hagemans,A.J.J. Reuser,Wim C. J. Hop,A.T. van der Ploeg,P.A. van Doorn,J.H.J. Wokke +7 more
TL;DR: Individual differences in pulmonary function and muscle strength indicate the need for regular monitoring every 6-12 months depending on the rate of disease progression, especially in pulmonary dysfunction.
Journal ArticleDOI
Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease.
N.A.M.E. van der Beek,C.I. van Capelle,K.I. van der Velden-van Etten,Wim C. J. Hop,B. van den Berg,A.J.J. Reuser,P.A. van Doorn,A.T. van der Ploeg,Henk J. Stam +8 more
TL;DR: It is concluded that pulmonary dysfunction in Pompe disease is much more common than generally thought and males, patients with severe muscle weakness, and those with advanced disease duration seem most at risk.
Journal ArticleDOI
Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study.
C. I. van Capelle,N.A.M.E. van der Beek,M.L.C. Hagemans,Willem F. M. Arts,Wim C. J. Hop,P. Lee,Jaak Jaeken,Ingrid M.E. Frohn-Mulder,P J F M Merkus,Deyanira Corzo,A C Puga,Arnold J. J. Reuser,A.T. van der Ploeg +12 more
TL;DR: Evaluation of treatment with recombinant human α-glucosidase in older children with Pompe disease found that muscle strength increased and pulmonary function remained stable or improved slightly, and patients obtained higher scores on the Quick Motor Function Test.
Journal ArticleDOI
Effects of a higher dose of alglucosidase alfa on ventilator-free survival and motor outcome in classic infantile Pompe disease: an open-label single-center study
C.M. van Gelder,Esther Poelman,Iris Plug,Marianne Hoogeveen-Westerveld,N.A.M.E. van der Beek,A.J.J. Reuser,A.T. van der Ploeg +6 more
TL;DR: The data may suggest that a dose of 40 mg/kg/week improves outcome of CRIM positive patients over that brought by the currently recommended dose of 20 mg-kg eow, although larger studies are needed to draw definite conclusions.