van der Beek NAME - Search Results

1

Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.

Niño MY, In 't Groen SLM, Bergsma AJ, van der Beek NAME, Kroos M, Hoogeveen-Westerveld M, van der Ploeg AT, Pijnappel WWMP. Niño MY, et al. Among authors: van der ploeg at, van der beek name. Hum Mutat. 2019 Nov;40(11):1954-1967. doi: 10.1002/humu.23854. Epub 2019 Jul 29. Hum Mutat. 2019. PMID: 31254424 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

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

4

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.

5

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

6

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

7

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

8

Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates.

van Diggelen OP, Oemardien LF, van der Beek NA, Kroos MA, Wind HK, Voznyi YV, Burke D, Jackson M, Winchester BG, Reuser AJ. van Diggelen OP, et al. J Inherit Metab Dis. 2009 Jun;32(3):416-23. doi: 10.1007/s10545-009-1082-3. Epub 2009 Apr 19. J Inherit Metab Dis. 2009. PMID: 19387865

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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