van der Beek NAME - Search Results

1

Enzyme replacement therapy reduces the risk for wheelchair dependency in adult Pompe patients.

van der Meijden JC, Kruijshaar ME, Rizopoulos D, van Doorn PA, van der Beek NAME, van der Ploeg AT. van der Meijden JC, et al. Among authors: van der ploeg at, van doorn pa, van der beek name. Orphanet J Rare Dis. 2018 May 22;13(1):82. doi: 10.1186/s13023-018-0824-4. Orphanet J Rare Dis. 2018. PMID: 29788986 Free PMC article.

2

Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy.

van der Beek NA, Hagemans ML, van der Ploeg AT, Reuser AJ, van Doorn PA. van der Beek NA, et al. Acta Neurol Belg. 2006 Jun;106(2):82-6. Acta Neurol Belg. 2006. PMID: 16898258 Review.

3

Increased aortic stiffness in glycogenosis type 2 (Pompe's disease).

Nemes A, Soliman OI, Geleijnse ML, Anwar AM, van der Beek NA, van Doorn PA, Gavallér H, Csajbók E, ten Cate FJ. Nemes A, et al. Int J Cardiol. 2007 Aug 9;120(1):138-41. doi: 10.1016/j.ijcard.2006.07.215. Epub 2006 Nov 3. Int J Cardiol. 2007. PMID: 17084921

4

Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.

Kroos MA, Pomponio RJ, Hagemans ML, Keulemans JL, Phipps M, DeRiso M, Palmer RE, Ausems MG, Van der Beek NA, Van Diggelen OP, Halley DJ, Van der Ploeg AT, Reuser AJ. Kroos MA, et al. Neurology. 2007 Jan 9;68(2):110-5. doi: 10.1212/01.wnl.0000252798.25690.76. Neurology. 2007. PMID: 17210890

5

Cardiac involvement in adults with Pompe disease.

Soliman OI, van der Beek NA, van Doorn PA, Vletter WB, Nemes A, Van Dalen BM, ten Cate FJ, van der Ploeg AT, Geleijnse ML. Soliman OI, et al. J Intern Med. 2008 Oct;264(4):333-9. doi: 10.1111/j.1365-2796.2008.01966.x. Epub 2008 Apr 4. J Intern Med. 2008. PMID: 18397245 Free article.

6

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.

Kroos M, Pomponio RJ, van Vliet L, Palmer RE, Phipps M, Van der Helm R, Halley D, Reuser A; GAA Database Consortium. Kroos M, et al. Hum Mutat. 2008 Jun;29(6):E13-26. doi: 10.1002/humu.20745. Hum Mutat. 2008. PMID: 18425781

7

Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32-13T>G genotype rarely reveals abnormalities.

van der Beek NA, Soliman OI, van Capelle CI, Geleijnse ML, Vletter WB, Kroos MA, Reuser AJ, Frohn-Mulder IM, van Doorn PA, van der Ploeg AT. van der Beek NA, et al. J Neurol Sci. 2008 Dec 15;275(1-2):46-50. doi: 10.1016/j.jns.2008.07.013. Epub 2008 Aug 30. J Neurol Sci. 2008. PMID: 18757064

8

Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease.

Van der Beek NA, Hagemans ML, Reuser AJ, Hop WC, Van der Ploeg AT, Van Doorn PA, Wokke JH. Van der Beek NA, et al. Neuromuscul Disord. 2009 Feb;19(2):113-7. doi: 10.1016/j.nmd.2008.11.007. Epub 2008 Dec 11. Neuromuscul Disord. 2009. PMID: 19084399

9

PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease.

Hagemans ML, Stigter RL, van Capelle CI, van der Beek NA, Winkel LP, van Vliet L, Hop WC, Reuser AJ, Beishuizen A, van der Ploeg AT. Hagemans ML, et al. J Inherit Metab Dis. 2010 Apr;33(2):133-9. doi: 10.1007/s10545-009-9027-4. Epub 2010 Jan 27. J Inherit Metab Dis. 2010. PMID: 20107902 Free PMC article. Clinical Trial.

10

Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study.

van Capelle CI, van der Beek NA, Hagemans ML, Arts WF, Hop WC, Lee P, Jaeken J, Frohn-Mulder IM, Merkus PJ, Corzo D, Puga AC, Reuser AJ, van der Ploeg AT. van Capelle CI, et al. Neuromuscul Disord. 2010 Dec;20(12):775-82. doi: 10.1016/j.nmd.2010.07.277. Neuromuscul Disord. 2010. PMID: 20817528 Clinical Trial.

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