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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
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
Jones, Simon A.; Parini, Rossella; Harmatz, Paul; Giugliani, Roberto; Fang, Juanzhi; Mendelsohn, Nancy J.; on behalf of the HOS Investigators, The HOS Natural History Working Group; Gautschi, Matthias (2013). The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS). Molecular genetics and metabolism, 109(1), pp. 41-48. Elsevier 10.1016/j.ymgme.2013.03.001
