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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
Rüegger, Corinne M; Lindner, Martin; Ballhausen, Diana; Baumgartner, Matthias R; Beblo, Skadi; Das, Anibh; Gautschi, Matthias; Glahn, Esther M; Grünert, Sarah C; Hennermann, Julia; Hochuli, Michel; Huemer, Martina; Karall, Daniela; Kölker, Stefan; Lachmann, Robin H; Lotz-Havla, Amelie; Möslinger, Dorothea; Nuoffer, Jean-Marc; Plecko, Barbara; Rutsch, Frank; ... (2013). Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. Journal of inherited metabolic disease, 37(1), pp. 21-30. Lancaster, UK: Springer 10.1007/s10545-013-9624-0
