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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. Among authors: van der ploeg at, van der beek na. Neuromuscul Disord. 2010 Dec;20(12):775-82. doi: 10.1016/j.nmd.2010.07.277. Neuromuscul Disord. 2010. PMID: 20817528 Clinical Trial.
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. Among authors: van der ploeg at, van der beek na, van diggelen op. Neurology. 2007 Jan 9;68(2):110-5. doi: 10.1212/01.wnl.0000252798.25690.76. Neurology. 2007. PMID: 17210890
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. Among authors: van der ploeg at, van dalen bm, van der beek na, van doorn pa. 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.
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. Among authors: van der ploeg at, van capelle ci, van doorn pa. 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
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. Among authors: van der ploeg at, van capelle ci, van der beek na, van vliet l. 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.
High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa.
de Vries JM, van der Beek NA, Kroos MA, Ozkan L, van Doorn PA, Richards SM, Sung CC, Brugma JD, Zandbergen AA, van der Ploeg AT, Reuser AJ. de Vries JM, et al. Among authors: van der ploeg at, van der beek na, van doorn pa. Mol Genet Metab. 2010 Dec;101(4):338-45. doi: 10.1016/j.ymgme.2010.08.009. Epub 2010 Aug 14. Mol Genet Metab. 2010. PMID: 20826098
67 results