N A M E van der Beek
Overview
Explore the profile of N A M E van der Beek including associated specialties, affiliations and a list of published articles.
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15
Citations
338
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Recent Articles
1.
van den Dorpel J, Mackenbach M, Dremmen M, van der Vlugt W, Rizopoulos D, van Doorn P, et al.
J Inherit Metab Dis
. 2024 Apr;
47(4):716-730.
PMID: 38584574
The aim of this longitudinal cohort study, is to provide more insight into the pattern of brain abnormalities, and possible consequences for cognitive functioning, in patients with classic infantile Pompe...
2.
van Kooten H, Roelen C, Brusse E, van der Beek N, Michels M, van der Ploeg A, et al.
Neuromuscul Disord
. 2021 Jan;
31(2):79-90.
PMID: 33386209
Pompe disease is a rare inherited metabolic and neuromuscular disorder, presenting as a spectrum, with the classic infantile form on one end and the more slowly progressive non-classic form on...
3.
van den Dorpel J, Poelman E, Harlaar L, van Kooten H, van der Giessen L, van Doorn P, et al.
Orphanet J Rare Dis
. 2020 Sep;
15(1):247.
PMID: 32928284
Background: Enzyme replacement therapy (ERT; alglucosidase alfa) has improved the prospects for patients with classic infantile Pompe disease considerably. However, over time we noticed that many of these children exhibit...
4.
van Kooten H, Harlaar L, van der Beek N, van Doorn P, van der Ploeg A, Brusse E
Neuromuscul Disord
. 2020 Jan;
30(1):59-66.
PMID: 31911071
Enzyme replacement therapy for Pompe disease received market authorization in 2006. To implement this costly treatment in the Netherlands in the most sensible way, a multidisciplinary expert committee was installed....
5.
Harlaar L, Ciet P, van der Ploeg A, Brusse E, van der Beek N, Wielopolski P, et al.
Neuromuscul Disord
. 2018 Feb;
28(3):246-256.
PMID: 29398294
Respiratory muscle weakness frequently occurs in patients with neuromuscular disease. Measuring respiratory function with standard pulmonary function tests provides information about the contribution of all respiratory muscles, the lungs and...
6.
van Gelder C, Poelman E, Plug I, Hoogeveen-Westerveld M, van der Beek N, Reuser A, et al.
J Inherit Metab Dis
. 2016 Jan;
39(3):383-390.
PMID: 26768149
Background: 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 ventilator-free...
7.
van der Beek N, Hagemans M, van der Ploeg A, van Doorn P, Merkies I
Neuromuscul Disord
. 2013 Jan;
23(3):256-64.
PMID: 23273871
We constructed a patient-based interval scale using Rasch analysis, specifically suited to quantify the effects of Pompe disease on patient's ability to carry out daily life activities and their social...
8.
van der Beek N, van Capelle C, van der Velden-van Etten K, Hop W, van Den Berg B, Reuser A, et al.
Mol Genet Metab
. 2011 Jul;
104(1-2):129-36.
PMID: 21763167
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 stabilize pulmonary function have recently...
9.
van Capelle C, van der Beek N, Hagemans M, Arts W, Hop W, Lee P, et al.
Neuromuscul Disord
. 2010 Sep;
20(12):775-82.
PMID: 20817528
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 survival of affected infants. The...
10.
van Diggelen O, Oemardien L, van der Beek N, Kroos M, Wind H, Voznyi Y, et al.
J Inherit Metab Dis
. 2009 Apr;
32(3):416-23.
PMID: 19387865
Enzyme analysis for Pompe disease in leukocytes has been greatly improved by the introduction of acarbose, a powerful inhibitor of interfering alpha-glucosidases, which are present in granulocytes but not in...