Incidence, disease onset and short-term outcome in urea cycle disorders –cross-border surveillance in Germany, Austria and Switzerland

por Nettesheim, Susanne, Kölker, Stefan, Karall, Daniela, Häberle, Johannes, Posset, Roland, Hoffmann, Georg F., Heinrich, Beate, Gleich, Florian, Garbade, Sven F.
Publicado 2017

Unmet Needs of Parents of Children with Urea Cycle Disorders

por Scharping, Mara, Brennenstuhl, Heiko, Garbade, Sven F., Wild, Beate, Posset, Roland, Zielonka, Matthias, Kölker, Stefan, Haun, Markus W., Opladen, Thomas
Publicado 2022

Early prediction of phenotypic severity in Citrullinemia Type 1

por Zielonka, Matthias, Kölker, Stefan, Gleich, Florian, Stützenberger, Nicolas, Nagamani, Sandesh C. S., Gropman, Andrea L., Hoffmann, Georg F., Garbade, Sven F., Posset, Roland
Publicado 2019

Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency

por Scharre, Svenja, Posset, Roland, Garbade, Sven F., Gleich, Florian, Seidl, Marie J., Druck, Ann‐Catrin, Okun, Jürgen G., Gropman, Andrea L., Nagamani, Sandesh C. S., Hoffmann, Georg F., Kölker, Stefan, Zielonka, Matthias
Publicado 2022

Real‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid‐free formulas in France and Germany: A retrospective observationa...

por de Lonlay, Pascale, Posset, Roland, Mütze, Ulrike, Mention, Karine, Lamireau, Delphine, Schiff, Manuel, Servais, Aude, Arnoux, Jean Baptiste, Brassier, Anaïs, Dao, Myriam, Douillard, Claire, Ottolenghi, Chris, Pontoizeau, Clément, Miotto, Federica, Le Mouhaër, Jeannie
Publicado 2021

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

por Posset, Roland, Garbade, Sven F., Gleich, Florian, Gropman, Andrea L., de Lonlay, Pascale, Hoffmann, Georg F., Garcia-Cazorla, Angeles, Nagamani, Sandesh C. S., Baumgartner, Matthias R., Schulze, Andreas, Dobbelaere, Dries, Yudkoff, Marc, Kölker, Stefan, Zielonka, Matthias
Publicado 2020