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Page 1
Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease.
Dimachkie MM, Barohn RJ, Byrne B, Goker-Alpan O, Kishnani PS, Ladha S, Laforêt P, Mengel KE, Peña LDM, Sacconi S, Straub V, Trivedi J, Van Damme P, van der Ploeg AT, Vissing J, Young P, Haack KA, Foster M, Gilbert JM, Miossec P, Vitse O, Zhou T, Schoser B; NEO-EXT investigators. Dimachkie MM, et al. Neurology. 2022 Aug 1;99(5):e536-e548. doi: 10.1212/WNL.0000000000200746. Neurology. 2022. PMID: 35618441 Free PMC article.
Response to Herbert et al.
de Vries JM, Kuperus E, Hoogeveen-Westerveld M, Kroos MA, Wens SCA, Stok M, van der Beek NAME, Kruijshaar ME, Rizopoulos D, van Doorn PA, van der Ploeg AT, Pijnappel WWMP. de Vries JM, et al. Among authors: kuperus e. Genet Med. 2017 Nov;19(11):1283-1284. doi: 10.1038/gim.2017.49. Epub 2017 Jun 29. Genet Med. 2017. PMID: 28661488 Free article. No abstract available.
Increased aortic stiffness and blood pressure in non-classic Pompe disease.
Wens SC, Kuperus E, Mattace-Raso FU, Kruijshaar ME, Brusse E, van Montfort KC, de Boer MS, Sijbrands EJ, van der Ploeg AT, van Doorn PA. Wens SC, et al. Among authors: kuperus e. J Inherit Metab Dis. 2014 May;37(3):391-7. doi: 10.1007/s10545-013-9667-2. Epub 2014 Jan 10. J Inherit Metab Dis. 2014. PMID: 24407465 Free PMC article.
Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy.
de Vries JM, Kuperus E, Hoogeveen-Westerveld M, Kroos MA, Wens SC, Stok M, van der Beek NA, Kruijshaar ME, Rizopoulos D, van Doorn PA, van der Ploeg AT, Pijnappel WW. de Vries JM, et al. Among authors: kuperus e. Genet Med. 2017 Jan;19(1):90-97. doi: 10.1038/gim.2016.70. Epub 2016 Jun 30. Genet Med. 2017. PMID: 27362911 Free article.
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. 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.