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5. Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study. van der Ploeg A, Carlier PG, Carlier RY, Kissel JT, Schoser B, Wenninger S, Pestronk A, Barohn RJ, Dimachkie MM, Goker-Alpan O, Mozaffar T, Pena LD, Simmons Z, Straub V, Guglieri M, Young P, Boentert M, Baudin PY, Wens S, Shafi R, Bjartmar C, Thurberg BL. Mol Genet Metab; 2016 Sep; 119(1-2):115-23. PubMed ID: 27473031 [Abstract] [Full Text] [Related]
6. Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium. Ditters IAM, Huidekoper HH, Kruijshaar ME, Rizopoulos D, Hahn A, Mongini TE, Labarthe F, Tardieu M, Chabrol B, Brassier A, Parini R, Parenti G, van der Beek NAME, van der Ploeg AT, van den Hout JMP, European Pompe Consortium project group on classic infantile Pompe disease. Lancet Child Adolesc Health; 2022 Jan; 6(1):28-37. PubMed ID: 34822769 [Abstract] [Full Text] [Related]
7. Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease. Case LE, Bjartmar C, Morgan C, Casey R, Charrow J, Clancy JP, Dasouki M, DeArmey S, Nedd K, Nevins M, Peters H, Phillips D, Spigelman Z, Tifft C, Kishnani PS. Neuromuscul Disord; 2015 Apr; 25(4):321-32. PubMed ID: 25617983 [Abstract] [Full Text] [Related]
8. Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in adult patients with Pompe disease. Kanters TA, van der Ploeg AT, Kruijshaar ME, Rizopoulos D, Redekop WK, Rutten-van Mӧlken MPMH, Hakkaart-van Roijen L. Orphanet J Rare Dis; 2017 Dec 13; 12(1):179. PubMed ID: 29237491 [Abstract] [Full Text] [Related]
9. High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa. de Vries JM, van der Beek NA, Kroos MA, Ozkan L, van Doorn PA, Richards SM, Sung CC, Brugma JD, Zandbergen AA, van der Ploeg AT, Reuser AJ. Mol Genet Metab; 2010 Dec 13; 101(4):338-45. PubMed ID: 20826098 [Abstract] [Full Text] [Related]
10. Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease. van Kooten HA, Ditters IAM, Hoogeveen-Westerveld M, Jacobs EH, van den Hout JMP, van Doorn PA, Pijnappel WWMP, van der Ploeg AT, van der Beek NAME. Orphanet J Rare Dis; 2022 Feb 02; 17(1):31. PubMed ID: 35109913 [Abstract] [Full Text] [Related]
13. Safety outcomes and patients' preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond. Toscano A, Musumeci O, Sacchini M, Ravaglia S, Siciliano G, Fiumara A, Verrecchia E, Maione M, Gentile J, Fischetto R, Crescimanno G, Taurisano R, Sechi A, Gasperini S, Cianci V, Maggi L, Parini R, Lupica A, Scarpa M. Orphanet J Rare Dis; 2023 Oct 27; 18(1):338. PubMed ID: 37891668 [Abstract] [Full Text] [Related]
16. European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience. van der Ploeg AT, Kruijshaar ME, Toscano A, Laforêt P, Angelini C, Lachmann RH, Pascual Pascual SI, Roberts M, Rösler K, Stulnig T, van Doorn PA, Van den Bergh PYK, Vissing J, Schoser B, European Pompe Consortium. Eur J Neurol; 2017 Jun 27; 24(6):768-e31. PubMed ID: 28477382 [Abstract] [Full Text] [Related]
17. 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. J Inherit Metab Dis; 2016 May 27; 39(3):383-390. PubMed ID: 26768149 [Abstract] [Full Text] [Related]
18. 36-Months follow-up assessment after cessation and resuming of enzyme replacement therapy in late onset Pompe disease: data from the Swiss Pompe Registry. Scheidegger O, Leupold D, Sauter R, Findling O, Rösler KM, Hundsberger T. J Neurol; 2018 Dec 27; 265(12):2783-2788. PubMed ID: 30232608 [Abstract] [Full Text] [Related]
19. STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa. Gutschmidt K, Musumeci O, Díaz-Manera J, Chien YH, Knop KC, Wenninger S, Montagnese F, Pugliese A, Tavilla G, Alonso-Pérez J, Hwu PW, Toscano A, Schoser B. J Neurol; 2021 Jul 27; 268(7):2482-2492. PubMed ID: 33543425 [Abstract] [Full Text] [Related]