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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: reuser aj. 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.
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: reuser aj. Neurology. 2007 Jan 9;68(2):110-5. doi: 10.1212/01.wnl.0000252798.25690.76. Neurology. 2007. PMID: 17210890
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: reuser aj. 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.
198 results