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Physical training and high-protein diet improved muscle strength, parent-reported fatigue, and physical quality of life in children with Pompe disease.
Scheffers LE, Somers OC, Dulfer K, Dieleman GC, Walet S, van der Giessen LJ, van der Ploeg AT, van den Hout JMP, van den Berg LE; exercise team. Scheffers LE, et al. Among authors: van der ploeg at, van der giessen lj, van den hout jmp, van den berg le. J Inherit Metab Dis. 2023 Jul;46(4):605-617. doi: 10.1002/jimd.12607. Epub 2023 Apr 17. J Inherit Metab Dis. 2023. PMID: 37002894 Clinical Trial.
Seven cases of Pompe disease from Greece.
Kroos M, Manta P, Mavridou I, Muntoni F, Halley D, Van der Helm R, Zaifeiriou D, Van der Ploeg A, Reuser A, Michelakakis H. Kroos M, et al. J Inherit Metab Dis. 2006 Aug;29(4):556-63. doi: 10.1007/s10545-006-0280-5. J Inherit Metab Dis. 2006. PMID: 16838077
Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy.
van Gelder CM, van Capelle CI, Ebbink BJ, Moor-van Nugteren I, van den Hout JM, Hakkesteegt MM, van Doorn PA, de Coo IF, Reuser AJ, de Gier HH, van der Ploeg AT. van Gelder CM, et al. Among authors: van der ploeg at, van capelle ci, van doorn pa, van den hout jm. J Inherit Metab Dis. 2012 May;35(3):505-11. doi: 10.1007/s10545-011-9404-7. Epub 2011 Oct 19. J Inherit Metab Dis. 2012. PMID: 22008944 Free PMC article.
Ten years of the international Pompe survey: patient reported outcomes as a reliable tool for studying treated and untreated children and adults with non-classic Pompe disease.
van der Meijden JC, Güngör D, Kruijshaar ME, Muir AD, Broekgaarden HA, van der Ploeg AT. van der Meijden JC, et al. Among authors: van der ploeg at. J Inherit Metab Dis. 2015 May;38(3):495-503. doi: 10.1007/s10545-014-9751-2. Epub 2014 Aug 12. J Inherit Metab Dis. 2015. PMID: 25112389
Effects of a higher dose of alglucosidase alfa on ventilator-free survival and motor outcome in classic infantile Pompe disease: an open-label single-center study.
van Gelder CM, Poelman E, Plug I, Hoogeveen-Westerveld M, van der Beek NAME, Reuser AJJ, van der Ploeg AT. van Gelder CM, et al. Among authors: van der ploeg at, van der beek name. J Inherit Metab Dis. 2016 May;39(3):383-390. doi: 10.1007/s10545-015-9912-y. Epub 2016 Jan 14. J Inherit Metab Dis. 2016. PMID: 26768149 Free PMC article.
Childhood Pompe disease: clinical spectrum and genotype in 31 patients.
van Capelle CI, van der Meijden JC, van den Hout JM, Jaeken J, Baethmann M, Voit T, Kroos MA, Derks TG, Rubio-Gozalbo ME, Willemsen MA, Lachmann RH, Mengel E, Michelakakis H, de Jongste JC, Reuser AJ, van der Ploeg AT. van Capelle CI, et al. Among authors: van der ploeg at, van der meijden jc, van den hout jm. Orphanet J Rare Dis. 2016 May 18;11(1):65. doi: 10.1186/s13023-016-0442-y. Orphanet J Rare Dis. 2016. PMID: 27189384 Free PMC article.
243 results