Teufel, Ulrike ; Burgard, Peter ; Meyburg, Jochen ; Lindner, Martin ; Poeschl, Johannes ; Ruef, Peter ; Hoffmann, Georg F. ; Kölker, Stefan (2019) High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders. Orphanet Journal of Rare Diseases, 14 (80). pp. 1-7. ISSN 1750-1172

Saffari, Afshin ; Brösse, Ines ; Wiemer-Kruel, Adelheid ; Wilken, Bernd ; Kreuzaler, Paula ; Hahn, Andreas ; Bernhard, Matthias K. ; van Tilburg, Cornelis M. ; Hoffmann, Georg F. ; Gorenflo, Matthias ; Hethey, Sven ; Kaiser, Olaf ; Kölker, Stefan ; Wagner, Robert ; Witt, Olaf ; Merkenschlager, Andreas ; Möckel, Andreas ; Roser, Timo ; Schlump, Jan-Ulrich ; Serfling, Antje ; Spiegler, Juliane ; Milde, Till ; Ziegler, Andreas ; Syrbe, Steffen (2019) Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study. Orphanet journal of rare diseases, 14 (96). pp. 1-13. ISSN 1750-1172

Boy, Nikolas ; Heringer, Jana ; Brackmann, Renate ; Bodamer, Olaf ; Seitz, Angelika ; Kölker, Stefan ; Harting, Inga (2017) Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity. Orphanet Journal of Rare Diseases, 12 (77). pp. 1-13. ISSN 1750-1172

Nettesheim, Susanne ; Kölker, Stefan ; Karall, Daniela ; Häberle, Johannes ; Posset, Roland ; Hoffmann, Georg F. ; Heinrich, Beate ; Gleich, Florian ; Garbade, Sven F. (2017) Incidence, disease onset and short-term outcome in urea cycle disorders – cross-border surveillance in Germany, Austria and Switzerland. Orphanet Journal of Rare Diseases, 12 (111). pp. 1-8. ISSN 1750-1172

Boy, Nikolas ; Heringer, Jana ; Haege, Gisela ; Glahn, Esther M. ; Hoffmann, Georg F. ; Garbade, Sven F. ; Kölker, Stefan ; Burgard, Peter (2015) A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I. Orphanet Journal of Rare Diseases, 10 (163). pp. 1-12. ISSN 1750-1172

Pfeil, Johannes ; Listl, Stefan ; Hoffmann, Georg F. ; Kölker, Stefan ; Lindner, Martin ; Burgard, Peter (2013) Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis. Orphanet Journal of Rare Diseases, 8 (167). pp. 1-11. ISSN 1750-1172