Suchergebnisse - RERO DOC

Consortium of Swiss Academic Libraries

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

Rüegger, Corinne ; Lindner, Martin ; Ballhausen, Diana ; Baumgartner, Matthias ; Beblo, Skadi ; Das, Anibh ; Gautschi, Matthias ; Glahn, Esther ; Grünert, Sarah ; Hennermann, Julia ; Hochuli, Michel ; Huemer, Martina ; Karall, Daniela ; Kölker, Stefan ; Lachmann, Robin ; Lotz-Havla, Amelie ; Möslinger, Dorothea ; Nuoffer, Jean-Marc ; Plecko, Barbara ; Rutsch, Frank ; Santer, René ; Spiekerkoetter, Ute ; Staufner, Christian ; Stricker, Tamar ; Wijburg, Frits ; Williams, Monique ; Burgard, Peter ; Häberle, Johannes

In: Journal of Inherited Metabolic Disease, 2014, vol. 37, no. 1, p. 21-30

Consortium of Swiss Academic Libraries

Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients

Sterl, Elisabeth ; Paul, Karl ; Paschke, Eduard ; Zschocke, Johannes ; Brunner-Krainz, Michaela ; Windisch, Eva ; Konstantopoulou, Vassiliki ; Möslinger, Dorothea ; Karall, Daniela ; Scholl-Bürgi, Sabine ; Sperl, Wolfgang ; Lagler, Florian ; Plecko, Barbara

In: Journal of Inherited Metabolic Disease, 2013, vol. 36, no. 1, p. 7-13

Consortium of Swiss Academic Libraries

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

Mills, Philippa B. ; Camuzeaux, Stephane S.M. ; Footitt, Emma J. ; Mills, Kevin A. ; Gissen, Paul ; Fisher, Laura ; Das, Krishna B. ; Varadkar, Sophia M. ; Zuberi, Sameer ; McWilliam, Robert ; Stödberg, Tommy ; Plecko, Barbara ; Baumgartner, Matthias R. ; Maier, Oliver ; Calvert, Sophie ; Riney, Kate ; Wolf, Nicole I. ; Livingston, John H. ; Bala, Pronab ; Morel, Chantal F. ; Feillet, François ; Raimondi, Francesco ; Del Giudice, Ennio ; Chong, W. Kling ; Pitt, Matthew ; Clayton, Peter T.

In: Brain, 2014, vol. 137, no. 5, p. 1350-1360

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