Fortbildung > General Meeting of SGIEM Afternoon Scientific Symposium 27.08.2020 14:00 - 17:00 3 Credits Inselspital Auditorium Murice E. Müller Murtenstrasse 35 Eingang 42 3000 Bern http://www.insel.ch https://inbornerrors.ch Programm Inselspital Auditorium Murice E. Müller Murtenstrasse 35 Eingang 42 3000 Bern http://www.insel.ch https://inbornerrors.ch Inscription General Meeting of SGIEM, Thursday 27 th August 2020 Morning Annual meeting of the SGIEM N ational Network Venue : Auditorium Murice E. Müller (MEM) , Murtenstrasse 35 , Entrance 42 09.15 General Meeting, Part 1 10:15 Coffee Break 10: 45 General Meeting , Part 2 11:45 Lunch Sub group Meetings 12: 15 -14 :00 Conference Room Vista: 12:15 -14:00 Dietician Group MEM Auditorium: 12:15 -13:00 Adult Group 13:00 -14:00 Mitochondria Group Aquarium: 12:15 -14:00 SGBOND (Floor E, Kinderklinik) General Meeting of SGIEM, Thursday 27 th August 2020 Afternoon Scientific Symposium Venue : Auditorium Murice E. Müller, Murtenstrasse 35, Entrance 42 14:00 Opening of the Scientific Symposium, Matthias Gautschi 14:0 5 Prof. Hans Jung , Zürich (by WebEx; time slot may change !): Mitochondrial Disorders in Adult Neurology 14: 45 Maria Isis Atallah Gonzalez, Lausanne: Spinal cerebrotendinous xanthomatosis: an easily overlooked treatable disorder 15 :00 Florin Bösch , Zürich: Health -related quality of life in paediatric patients with intoxication type errors of metabolism: Analyses of an international dataset 15:15 Timothée Ndarugendamwo,Zürich: Understanding the clinical spectrum of Osteogenesis imperfecta, 15: 30 Break 16 :00 Tatiana Brémova -Ertl, Bern: Heterozygous mutations in lysosomal storage diseases and their role in late -onset neurodegeneration and neuroinflammation. 16:30 Pei Jin Lim , Zürich : Defining Pathomechanisms and Molecular Signatures of X -linked MBTPS2 Osteogenesis Imperfecta 16: 45 Jan Gaugler , Bern: The impact of genotype on the deep phenotyping of the Swiss Classical Galactosemia Cohort 17 :00 Closing Remarks – followed by Apéro dînatoire Durchführungsort: Murtenstrasse 35, 3008 Bern Email: matthias.gautschi@insel.ch