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  2. Seidl, Marie [Author]; Scharré, Svenja [Author]; Posset, Roland [Author]; Druck, Ann-Catrin [Author]; Epp, Friederike [Author]; Okun, Jürgen G. [Author]; Dimitrov, Bianca [Author]; Hoffmann, Georg F. [Author]; Kölker, Stefan [Author]; Zielonka, Matthias [Author]

    ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae

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    January 2024

    Published in: Molecular genetics and metabolism ; 141(2024), 1 vom: Jan., Artikel-ID 108097, Seite 1-11

  3. Posset, Roland [Author]; Garbade, Sven [Author]; Gleich, Florian [Author]; Scharré, Svenja [Author]; Okun, Jürgen G. [Author]; Gropman, Andrea L. [Author]; Nagamani, Sandesh C. S. [Author]; Druck, Ann-Catrin [Author]; Epp, Friederike [Author]; Hoffmann, Georg F. [Author]; Kölker, Stefan [Author]; Zielonka, Matthias [Author]

    Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

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    April 2024

    Published in: Genetics in medicine ; 26(2024), 4 vom: Apr., Artikel-ID 101039, Seite 1-12

  4. Bringmann, Gerhard; Dauer, Ulrich; Schupp, Olaf; Lankers, Markus; Popp, Jürgen; Posset, Uwe; Weippert, Andrea; Kiefer, Wolfgang

    The influence of aluminum trichloride on a configuratively labile lactone-bridged biaryl: quantum chemical calculations and optical spectroscopy

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    Elsevier BV, 1994

    Published in: Inorganica Chimica Acta, 222 (1994) 1-2, Seite 247-253

  5. Posset, Roland; Opp, Silvana; Struys, Eduard A.; Völkl, Alfred; Mohr, Heribert; Hoffmann, Georg F.; Kölker, Stefan; Sauer, Sven W.; Okun, Jürgen G.

    Understanding cerebral L‐lysine metabolism: the role of L‐pipecolate metabolism in Gcdh‐deficient mice as a model for glutaric aciduria type I

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    Wiley, 2015

    Published in: Journal of Inherited Metabolic Disease, 38 (2015) 2, Seite 265-272

  6. 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

    Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency

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    Wiley, 2022

    Published in: Annals of Clinical and Translational Neurology, 9 (2022) 11, Seite 1715-1726

  7. Boy, Nikolas; Mühlhausen, Chris; Maier, Esther M.; Heringer, Jana; Assmann, Birgit; Burgard, Peter; Dixon, Marjorie; Fleissner, Sandra; Greenberg, Cheryl R.; Harting, Inga; Hoffmann, Georg F.; Karall, Daniela; Koeller, David M.; Krawinkel, Michael B.; Okun, Jürgen G.; Opladen, Thomas; Posset, Roland; Sahm, Katja; Zschocke, Johannes; Kölker, Stefan

    Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

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    Wiley, 2017

    Published in: Journal of Inherited Metabolic Disease, 40 (2017) 1, Seite 75-101

  8. Boy, Nikolas; Mühlhausen, Chris; Maier, Esther M.; Ballhausen, Diana; Baumgartner, Matthias R.; Beblo, Skadi; Burgard, Peter; Chapman, Kimberly A.; Dobbelaere, Dries; Heringer‐Seifert, Jana; Fleissner, Sandra; Grohmann‐Held, Karina; Hahn, Gabriele; Harting, Inga; Hoffmann, Georg F.; Jochum, Frank; Karall, Daniela; Konstantopoulous, Vassiliki; Krawinkel, Michael B.; Lindner, Martin; Märtner, E. M. Charlotte; Nuoffer, Jean‐Marc; Okun, Jürgen G.; Plecko, Barbara; [...]

    Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

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    Wiley, 2023

    Published in: Journal of Inherited Metabolic Disease, 46 (2023) 3, Seite 482-519

  9. Zielonka, Matthias; Garbade, Sven F.; Gleich, Florian; Okun, Jürgen G.; Nagamani, Sandesh C. S.; Gropman, Andrea L.; Hoffmann, Georg F.; Kölker, Stefan; Posset, Roland; Ah Mew, Nicholas; Burrage, Lindsay C.; Schulze, Andreas; Berry, Susan A.; Baumgartner, Matthias R.; Diaz, George A.; Merritt, J. Lawrence; Bedoyan, Jirair K.; Wong, Derek; Harding, Cary O.; Yudkoff, Marc; Garcia‐Cazorla, Angeles; Cortès‐Saladelafont, Elisenda; Lund, Allan M.; Dionisi‐Vici, Carlo; [...]

    From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria

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    Hindawi Limited, 2020

    Published in: Human Mutation, 41 (2020) 5, Seite 946-960