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Number of items: 5.

Nolting, Kristine; Park, Julien H; Tegtmeyer, Laura C; Zühlsdorf, Andrea; Grüneberg, Marianne; Rust, Stephan; Reunert, Janine; Du Chesne, Ingrid; Debus, Volker; Schulze-Bahr, Eric; Baxter, Robert C; Wada, Yoshinao; Thiel, Christian; van Schaftingen, Emile; Fingerhut, Ralph; Marquardt, Thorsten (2017). Limitations of galactose therapy in phosphoglucomutase 1 deficiency. Molecular Genetics and Metabolism Reports, 13:33-40.

Schänzer, Anne; Kaiser, Ann-Kathrin; Mühlfeld, Christian; Kulessa, Martin; Paulus, Werner; von Pein, Harald; Rohrbach, Marianne; Viergutz, Lara; Mengel, Eugen; Marquardt, Thorsten; Neubauer, Bernd; Acker, Till; Hahn, Andreas (2017). Quantification of muscle pathology in infantile Pompe disease. Neuromuscular Disorders : NMD, 27(2):141-152.

Schwerd, Tobias; Pandey, Sumeet; Yang, Huei-Ting; Bagola, Katrin; Jameson, Elisabeth; Jung, Jonathan; Lachmann, Robin H; Shah, Neil; Patel, Smita Y; Booth, Claire; Runz, Heiko; Düker, Gesche; Bettels, Ruth; Rohrbach, Marianne; Kugathasan, Subra; Chapel, Helen; Keshav, Satish; Elkadri, Abdul; Platt, Nick; Muise, Alexio M; Koletzko, Sibylle; Xavier, Ramnik J; Marquardt, Thorsten; Powrie, Fiona; Wraith, James E; Gyrd-Hansen, Mads; Platt, Frances M; Uhlig, Holm H (2017). Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease. Gut, 66(6):1060-1073.

Hahn, Andreas; Praetorius, Susanne; Karabul, Nesrin; Dießel, Johanna; Schmidt, Dorle; Motz, Reinald; Haase, Claudia; Baethmann, Martina; Hennermann, Julia B; Smitka, Martin; Santer, René; Muschol, Nicole; Meyer, Ann; Marquardt, Thorsten; Huemer, Martina; Thiels, Charlotte; Rohrbach, Marianne; Seyfullah, Gökce; Mengel, Eugen (2015). Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany. In: Zschocke, Johannes; Baumgartner, Matthias; Morava, Eva; Patterson, Marc; Rahman, Shamima; Peters, Verena. JMID Reports. Berlin Heidelberg: Springer, 65-75.

Grünert, Sarah C; Müllerleile, Stephanie; De Silva, Linda; Barth, Michael; Walter, Melanie; Walter, Kerstin; Meissner, Thomas; Lindner, Martin; Ensenauer, Regina; Santer, René; Bodamer, Olaf A; Baumgartner, Matthias R; Brunner-Krainz, Michaela; Karall, Daniela; Haase, Claudia; Knerr, Ina; Marquardt, Thorsten; Hennermann, Julia B; Steinfeld, Robert; Beblo, Skadi; Koch, Hans-Georg; Konstantopoulou, Vassiliki; Scholl-Bürgi, Sabine; van Teeffelen-Heithoff, Agnes; Suormala, Terttu; Sperl, Wolfgang; Kraus, Jan P; Superti-Furga, Andrea; Schwab, Karl Otfried; Sass, Jörn Oliver (2013). Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. Orphanet Journal of Rare Diseases, 8:6.

This list was generated on Sat Nov 17 10:27:45 2018 CET.