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Bösch, Florin; Landolt, Markus A; Baumgartner, Matthias R; Fernandez, Susana; Forny, Patrick; Gautschi, Matthias; Grünert, Sarah C; Häberle, Johannes; Horvath, Carolina; Karall, Daniela; Lampis, Danila; Rohrbach, Marianne; Scholl-Bürgi, Sabine; Szinnai, Gabor; Huemer, Martina (2022). Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism. Molecular genetics and metabolism reports, 31, p. 100876. Elsevier 10.1016/j.ymgmr.2022.100876
Moosa, Shahida; Yamamoto, Guilherme L; Garbes, Lutz; Keupp, Katharina; Beleza-Meireles, Ana; Moreno, Carolina Araujo; Valadares, Eugenia Ribeiro; de Sousa, Sérgio B; Maia, Sofia; Saraiva, Jorge; Honjo, Rachel S; Kim, Chong Ae; Cabral de Menezes, Hamilton; Lausch, Ekkehart; Lorini, Pablo Villavicencio; Lamounier, Arsonval; Carniero, Tulio Canella Bezerra; Giunta, Cecilia; Rohrbach, Marianne; Janner, Marco; ... (2019). Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta. American journal of human genetics, 105(4), pp. 836-843. Cell Press 10.1016/j.ajhg.2019.08.008
Lagler, Florian B; Moder, Angelika; Rohrbach, Marianne; Hennermann, Julia; Mengel, Eugen; Gökce, Seyfullah; Hundsberger, Thomas; Rösler, Kai M.; Karabul, Nesrin; Huemer, Martina (2019). Extent, impact, and predictors of diagnostic delay in Pompe disease: A combined survey approach to unveil the diagnostic odyssey. JIMD reports, 49(1), pp. 89-95. Wiley 10.1002/jmd2.12062
Khan, Shaukat A; Peracha, Hira; Ballhausen, Diana; Wiesbauer, Alfred; Rohrbach, Marianne; Gautschi, Matthias; Mason, Robert W; Giugliani, Roberto; Suzuki, Yasuyuki; Orii, Kenji E; Orii, Tadao; Tomatsu, Shunji (2017). Epidemiology of mucopolysaccharidoses. Molecular genetics and metabolism, 121(3), pp. 227-240. Elsevier 10.1016/j.ymgme.2017.05.016
Lindert, Uschi; Weis, Mary Ann; Rai, Jyoti; Seeliger, Frank; Hausser, Ingrid; Leeb, Tosso; Eyre, David; Rohrbach, Marianne; Giunta, Cecilia (2015). Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta. Journal of biological chemistry, 290(29), pp. 17679-17689. American Society for Biochemistry and Molecular Biology 10.1074/jbc.M115.661025
Klinke, Glynis; Rohrbach, Marianne; Giugliani, Roberto; Burda, Patricie; Baumgartner, Matthias R; Tran, Christel; Gautschi, Matthias; Mathis, Déborah; Hersberger, Martin (2015). LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases. Clinical biochemistry, 48(9), pp. 596-602. Elsevier 10.1016/j.clinbiochem.2015.03.007
Abela, Lucia; Plecko, Barbara; Palla, Antonella; Burda, Patricie; Nuoffer, Jean-Marc; Ballhausen, Diana; Rohrbach, Marianne (2014). Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study. Orphanet journal of rare diseases, 9(1), p. 176. BioMed Central 10.1186/s13023-014-0176-7
Bonafé, Luisa; Giunta, Cecillia; Hasler, Carol; Janner, Marco; Kränzlin, Marius; Link, Bianca; Meier, Christian; Leonard, E. Ramseier; Rohrbach, Marianne; Unger, Sheila (2013). Osteogenesis imperfecta: Klinik, Diagnose und Management vom Kindes- bis ins Erwachsenenalter. Swiss Medical Forum, 13(46), pp. 925-931. EMH Swiss Medical Publishers
Hundsberger, Thomas; Rohrbach, Marianne; Kern, Lukas; Rösler, Kai Michael (2013). Swiss national guideline for reimbursement of enzyme replacement therapy in late-onset Pompe disease. Journal of neurology, 260(9), pp. 2279-2285. Springer-Medizin-Verlag 10.1007/s00415-013-6980-5
Meienberg, Janine; Rohrbach, Marianne; Neuenschwander, Stefan; Spanaus, Katharina; Giunta, Cecilia; Alonso, Sira; Arnold, Eliane; Henggeler, Caroline; Regenass, Stephan; Patrignani, Andrea; Azzarello-Burri, Silvia; Steiner, Bernhard; Nygren, Anders O H; Carrel, Thierry; Steinmann, Beat; Mátyás, Gábor (2010). Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency. European journal of human genetics, 18(12), pp. 1315-21. Houndmills, UK: Nature Publishing Group 10.1038/ejhg.2010.105
