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The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease.
Kuperus E, van der Meijden JC, In 't Groen SLM, Kroos MA, Hoogeveen-Westerveld M, Rizopoulos D, Martinez MYN, Kruijshaar ME, van Doorn PA, van der Beek NAME, van der Ploeg AT, Pijnappel WWMP. Kuperus E, et al. Among authors: van der meijden jc. PLoS One. 2018 Dec 7;13(12):e0208854. doi: 10.1371/journal.pone.0208854. eCollection 2018. PLoS One. 2018. PMID: 30532252 Free PMC article. Clinical Trial.
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
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 meijden jc. 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.
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