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

Wassenberg, Tessa ; Molero-Luis, Marta ; Jeltsch, Kathrin ; Hoffmann, Georg F. ; Assmann, Birgit ; Blau, Nenad ; Garcia-Cazorla, Angeles ; Artuch, Rafael ; Pons, Roser ; Pearson, Toni S. ; Leuzzi, Vincenco ; Mastrangelo, Mario ; Pearl, Phillip L. ; Lee, Wang Tso ; Kurian, Manju A. ; Heales, Simon ; Flint, Lisa ; Verbeek, Marcel ; Willemsen, Michèl ; Opladen, Thomas (2017) Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet Journal of Rare Diseases, 12 (12). pp. 1-21. 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

Lutz, Thomas ; Lampert, Anette ; Hoffmann, Georg F. ; Ries, Markus (2016) Novel treatments for rare rheumatologic disorders: analysis of the impact of 30 years of the US orphan drug act. Orphanet Journal of Rare Diseases, 11 (60). pp. 1-12. 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

Hoffmann, Georg F. (2012) Zentrum für Seltene Erkrankungen : Am Universitätsklinikum Heidelberg gibt es ein spezielles Zentrum für Menschen, die von einer seltenen Krankheit betroffen sind. [Audio]

Bener, Abdulbari ; Hoffmann, Georg F. (2010) Nutritional rickets among children in a sun rich country (clinical study). International Journal of Pediatric Endocrinology. pp. 1-7. ISSN 1687-9856