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[The basics of lysosomal storage diseases].
Tamò R, Rohrbach M, Baumgartner M, Beuschlein F, Nowak A. Tamò R, et al. Among authors: rohrbach m. Ther Umsch. 2018 Nov;75(4):199-207. doi: 10.1024/0040-5930/a000990. Ther Umsch. 2018. PMID: 30468118 German.
CRIM-negative infantile Pompe disease: 42-month treatment outcome.
Rohrbach M, Klein A, Köhli-Wiesner A, Veraguth D, Scheer I, Balmer C, Lauener R, Baumgartner MR. Rohrbach M, et al. J Inherit Metab Dis. 2010 Dec;33(6):751-7. doi: 10.1007/s10545-010-9209-0. Epub 2010 Sep 30. J Inherit Metab Dis. 2010. PMID: 20882352 Free article.
Cardiac disease in children and young adults with various lysosomal storage diseases: Comparison of echocardiographic and ECG changes among clinical groups.
Mueller P, Attenhofer Jost CH, Rohrbach M, Valsangiacomo Buechel ER, Seifert B, Balmer C, Kretschmar O, Baumgartner MR, Weber R. Mueller P, et al. Among authors: rohrbach m. Int J Cardiol Heart Vessel. 2013 Nov 13;2:1-7. doi: 10.1016/j.ijchv.2013.10.002. eCollection 2013 Mar. Int J Cardiol Heart Vessel. 2013. PMID: 29450157 Free PMC article.
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.
Kapferer-Seebacher I, Pepin M, Werner R, Aitman TJ, Nordgren A, Stoiber H, Thielens N, Gaboriaud C, Amberger A, Schossig A, Gruber R, Giunta C, Bamshad M, Björck E, Chen C, Chitayat D, Dorschner M, Schmitt-Egenolf M, Hale CJ, Hanna D, Hennies HC, Heiss-Kisielewsky I, Lindstrand A, Lundberg P, Mitchell AL, Nickerson DA, Reinstein E, Rohrbach M, Romani N, Schmuth M, Silver R, Taylan F, Vandersteen A, Vandrovcova J, Weerakkody R, Yang M, Pope FM; Molecular Basis of Periodontal EDS Consortium; Byers PH, Zschocke J. Kapferer-Seebacher I, et al. Among authors: rohrbach m. Am J Hum Genet. 2016 Nov 3;99(5):1005-1014. doi: 10.1016/j.ajhg.2016.08.019. Epub 2016 Oct 13. Am J Hum Genet. 2016. PMID: 27745832 Free PMC article.
Quantification of muscle pathology in infantile Pompe disease.
Schänzer A, Kaiser AK, Mühlfeld C, Kulessa M, Paulus W, von Pein H, Rohrbach M, Viergutz L, Mengel E, Marquardt T, Neubauer B, Acker T, Hahn A. Schänzer A, et al. Among authors: rohrbach m. Neuromuscul Disord. 2017 Feb;27(2):141-152. doi: 10.1016/j.nmd.2016.10.010. Epub 2016 Nov 3. Neuromuscul Disord. 2017. PMID: 27927596
211 results