Header

UZH-Logo

Maintenance Infos

Browse by Creators

Navigate back| Up a level
Export as
Number of items: 11.

Remacle, Noémie; Forny, Patrick; Cudré-Cung, Hong-Phuc; Gonzalez-Melo, Mary; do Vale-Pereira, Sónia; Henry, Hugues; Teav, Tony; Gallart-Ayala, Hector; Braissant, Olivier; Baumgartner, Matthias; Ballhausen, Diana (2018). New in vitro model derived from brain-specific Mut-/- mice confirms cerebral ammonium accumulation in methylmalonic aciduria. Molecular Genetics and Metabolism, 124(4):266-277.

Ballhausen, Diana; Berweck, Steffen; Besmens, Inga; Calcagni, Maurizio; Erkert, Bernd; Fairhurst, Charlie; Fink, Renate; Giesen, Thomas; Koch, Johannes; Preiss, Andrea; Schlack, Hans Georg; Schulze, Christina; Staudt, Martin; van Hedel, Hubertus (2018). Zerebralparese : Diagnose, Therapie und multidisziplinäres Management. Stuttgart: Georg Thieme Verlag.

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.

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):227-240.

Braissant, Olivier; Jafari, Paris; Remacle, Noémie; Cudré-Cung, Hong-Phuc; Do Vale Pereira, Sonia; Ballhausen, Diana (2017). Immunolocalization of glutaryl-CoA dehydrogenase (GCDH) in adult and embryonic rat brain and peripheral tissues. Neuroscience, 343:355-363.

Front, Sophie; Biela-Banaś, Anna; Burda, Patricie; Ballhausen, Diana; Higaki, Katsumi; Caciotti, Anna; Morrone, Amelia; Charollais-Thoenig, Julie; Gallienne, Estelle; Demotz, Stéphane; Martin, Olivier R (2017). (5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B. European journal of medicinal chemistry, 126:160-170.

Tran, Christel; Serratrice, Jacques; Nuoffer, Jean-Marc; Schaller, Andre; Favrat, Bernard; Barbey, Frederic; Lobrinus, J Alexander; Kern, Ilse; Kuntzer, Thierry; Ballhausen, Diana (2017). Raising the internist's know-how in the field of rare diseases: mitochondrial diseases as an illustrative example. Revue Médicale Suisse, 13(546):159-163.

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, 9:176.

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.

Balmer, Christian; Ballhausen, Diana; Bosshard, Nils U; Steinmann, Beat; Boltshauser, Eugen; Bauersfeld, Urs; Superti-Furga, Andrea (2005). Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene. European Journal of Pediatrics, 164(8):509-514.

This list was generated on Thu Jun 27 03:42:58 2019 CEST.