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Toward deconstructing the phenotype of late-onset Pompe disease.
Schüller A, Wenninger S, Strigl-Pill N, Schoser B. Schüller A, et al. Among authors: schoser b. Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):80-8. doi: 10.1002/ajmg.c.31322. Epub 2012 Jan 17. Am J Med Genet C Semin Med Genet. 2012. PMID: 22253010
36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy.
Regnery C, Kornblum C, Hanisch F, Vielhaber S, Strigl-Pill N, Grunert B, Müller-Felber W, Glocker FX, Spranger M, Deschauer M, Mengel E, Schoser B. Regnery C, et al. Among authors: schoser b. J Inherit Metab Dis. 2012 Sep;35(5):837-45. doi: 10.1007/s10545-012-9451-8. Epub 2012 Jan 31. J Inherit Metab Dis. 2012. PMID: 22290025 Clinical Trial.
Pompe disease: what are we missing?
Schoser B. Schoser B. Ann Transl Med. 2019 Jul;7(13):292. doi: 10.21037/atm.2019.05.29. Ann Transl Med. 2019. PMID: 31392204 Free PMC article. Review.
Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment.
Laforêt P, Inoue M, Goillot E, Lefeuvre C, Cagin U, Streichenberger N, Leonard-Louis S, Brochier G, Madelaine A, Labasse C, Hedberg-Oldfors C, Krag T, Jauze L, Fabregue J, Labrune P, Milisenda J, Nadaj-Pakleza A, Sacconi S, Mingozzi F, Ronzitti G, Petit F, Schoser B, Oldfors A, Vissing J, Romero NB, Nishino I, Malfatti E. Laforêt P, et al. Among authors: schoser b. Acta Neuropathol Commun. 2019 Oct 28;7(1):167. doi: 10.1186/s40478-019-0815-2. Acta Neuropathol Commun. 2019. PMID: 31661040 Free PMC article.
Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial.
Schoser B, Roberts M, Byrne BJ, Sitaraman S, Jiang H, Laforêt P, Toscano A, Castelli J, Díaz-Manera J, Goldman M, van der Ploeg AT, Bratkovic D, Kuchipudi S, Mozaffar T, Kishnani PS; PROPEL Study Group. Schoser B, et al. Lancet Neurol. 2021 Dec;20(12):1027-1037. doi: 10.1016/S1474-4422(21)00331-8. Lancet Neurol. 2021. PMID: 34800400 Clinical Trial.
349 results