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Unclassified polysaccharidosis of the heart and skeletal muscle in siblings.
Schoser B, Bruno C, Schneider HC, Shin YS, Podskarbi T, Goldfarb L, Müller-Felber W, Müller-Höcker J. Schoser B, et al. Mol Genet Metab. 2008 Sep-Oct;95(1-2):52-8. doi: 10.1016/j.ymgme.2008.07.005. Epub 2008 Aug 8. Mol Genet Metab. 2008. PMID: 18691923 Free PMC article.
Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial.
Strothotte S, Strigl-Pill N, Grunert B, Kornblum C, Eger K, Wessig C, Deschauer M, Breunig F, Glocker FX, Vielhaber S, Brejova A, Hilz M, Reiners K, Müller-Felber W, Mengel E, Spranger M, Schoser B. Strothotte S, et al. Among authors: schoser b. J Neurol. 2010 Jan;257(1):91-7. doi: 10.1007/s00415-009-5275-3. Epub 2009 Aug 1. J Neurol. 2010. PMID: 19649685 Clinical Trial.
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.
[Diagnosis and therapy of late onset Pompe disease].
Schüller A, Kornblum C, Deschauer M, Vorgerd M, Schrank B, Mengel E, Lukacs Z, Gläser D, Young P, Plöckinger U, Schoser B. Schüller A, et al. Among authors: schoser b. Nervenarzt. 2013 Dec;84(12):1467-72. doi: 10.1007/s00115-013-3947-9. Nervenarzt. 2013. PMID: 24264645 Review. German.
Pregnancy and delivery in women with Pompe disease.
Karabul N, Berndt J, Kornblum C, Kley RA, Wenninger S, Tiling N, Mengel E, Plöckinger U, Vorgerd M, Deschauer M, Schoser B, Hanisch F. Karabul N, et al. Among authors: schoser b. Mol Genet Metab. 2014 Jun;112(2):148-53. doi: 10.1016/j.ymgme.2014.03.010. Epub 2014 Mar 30. Mol Genet Metab. 2014. PMID: 24726296
349 results