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Number of items: 7.

Boy, Nikolas; Mengler, Katharina; Thimm, Eva; Schiergens, Katharina A; Marquardt, Thorsten; Weinhold, Natalie; Marquardt, Iris; Das, Anibh M; Freisinger, Peter; Grünert, Sarah C; Vossbeck, Judith; Steinfeld, Robert; Baumgartner, Matthias R; Beblo, Skadi; Dieckmann, Andrea; Näke, Andrea; Lindner, Martin; Heringer, Jana; Hoffmann, Georg F; Mühlhausen, Chris; Maier, Esther M; Ensenauer, Regina; Garbade, Sven F; Kölker, Stefan (2018). Newborn screening: A disease-changing intervention for glutaric aciduria type 1. Annals of Neurology, 83(5):970-979.

Burgard, Peter; Ullrich, Kurt; Ballhausen, Diana; Hennermann, Julia B; Hollak, Carla E M; Langeveld, Mirjam; Karall, Daniela; Konstantopoulou, Vassiliki; Maier, Esther M; Lang, Frauke; Lachmann, Robin; Murphy, Elaine; Garbade, Sven; Hoffmann, Georg F; Kölker, Stefan; Lindner, Martin; Zschocke, Johannes (2017). Issues with European guidelines for phenylketonuria. The Lancet. Diabetes & Endocrinology, 5(9):681-683.

Diez-Fernandez, Carmen; Rüfenacht, Véronique; Santra, Saikat; Lund, Allan M; Santer, René; Lindner, Martin; Tangeraas, Trine; Unsinn, Caroline; de Lonlay, Pascale; Burlina, Alberto; van Karnebeek, Clara D M; Häberle, Johannes (2016). Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis. Genetics in Medicine, 18(10):991-1000.

Fischer, Sabine; Huemer, Martina; Baumgartner, Matthias; Deodato, Federica; Ballhausen, Diana; Boneh, Avihu; Burlina, Alberto B; Cerone, Roberto; Garcia, Paula; Gökçay, Gülden; Grünewald, Stephanie; Häberle, Johannes; Jaeken, Jaak; Ketteridge, David; Lindner, Martin; Mandel, Hanna; Martinelli, Diego; Martins, Esmeralda G; Schwab, Karl O; Gruenert, Sarah C; Schwahn, Bernd C; Sztriha, László; Tomaske, Maren; Trefz, Friedrich; Vilarinho, Laura; Rosenblatt, David S; Fowler, Brian; Dionisi-Vici, Carlo (2014). Clinical presentation and outcome in a series of 88 patients with the cblC defect. Journal of Inherited Metabolic Disease, 37(5):831-840.

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; Santer, René; Spiekerkoetter, Ute; Staufner, Christian; Stricker, Tamar; Wijburg, Frits A; Williams, Monique; Burgard, Peter; Häberle, Johannes (2014). Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. Journal of Inherited Metabolic Disease, 37(1):21-30.

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.

Häberle, Johannes; Boddaert, Nathalie; Burlina, Alberto; Chakrapani, Anupam; Dixon, Marjorie; Huemer, Martina; Karall, Daniela; Martinelli, Diego; Crespo, Pablo Sanjurjo; Santer, René; Servais, Aude; Valayannopoulos, Vassili; Lindner, Martin; Rubio, Vicente; Dionisi-Vici, Carlo (2012). Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet Journal of Rare Diseases, 7:32.

This list was generated on Sun Mar 24 17:04:56 2019 CET.