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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.
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
A randomized study of alglucosidase alfa in late-onset Pompe's disease.
van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ, Herson S, Kishnani PS, Laforet P, Lake SL, Lange DJ, Leshner RT, Mayhew JE, Morgan C, Nozaki K, Park DJ, Pestronk A, Rosenbloom B, Skrinar A, van Capelle CI, van der Beek NA, Wasserstein M, Zivkovic SA. van der Ploeg AT, et al. Among authors: van capelle ci, van der beek na. N Engl J Med. 2010 Apr 15;362(15):1396-406. doi: 10.1056/NEJMoa0909859. N Engl J Med. 2010. PMID: 20393176 Free article. Clinical Trial.
Hearing loss in Pompe disease revisited: results from a study of 24 children.
van Capelle CI, Goedegebure A, Homans NC, Hoeve HL, Reuser AJ, van der Ploeg AT. van Capelle CI, et al. Among authors: van der ploeg at. J Inherit Metab Dis. 2010 Oct;33(5):597-602. doi: 10.1007/s10545-010-9144-0. Epub 2010 Jul 2. J Inherit Metab Dis. 2010. PMID: 20596893 Free PMC article.
Gingival overgrowth in Pompe disease: a case report.
de Gijt JP, van Capelle CI, Oosterhuis JW, van der Ploeg AT, van der Wal KG. de Gijt JP, et al. Among authors: van capelle ci. J Oral Maxillofac Surg. 2011 Aug;69(8):2186-90. doi: 10.1016/j.joms.2011.03.070. J Oral Maxillofac Surg. 2011. PMID: 21783002
17 results