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  1. Kölker, Stefan [Author]; Gleich, Florian [Author]; Mütze, Ulrike [Author]; Opladen, Thomas [Author]

    Rare disease registries are key to evidence-based personalized medicine : highlighting the european experience

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    04 March 2022

    Published in: Frontiers in endocrinology ; 13(2022), Artikel-ID 832063, Seite 1-11

  2. Posset, Roland [Author]; Zielonka, Matthias [Author]; Gleich, Florian [Author]; Garbade, Sven [Author]; Hoffmann, Georg F. [Author]; Kölker, Stefan [Author]

    The challenge of understanding and predicting phenotypic diversity in urea cycle disorders

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    November 2023

    Published in: Journal of inherited metabolic disease ; 46(2023), 6 vom: Nov., Seite 1007-1016

  3. Mütze, Ulrike [Author]; Mengler, Katharina [Author]; Boy, Nikolas [Author]; Gleich, Florian [Author]; Opladen, Thomas [Author]; Garbade, Sven [Author]; Kölker, Stefan [Author]

    How longitudinal observational studies can guide screening strategy for rare diseases

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    29 April 2022

    Published in: Journal of inherited metabolic disease ; 45(2022), 5, Seite 889-901

  4. Nettesheim, Susanne [Author]; Kölker, Stefan [Author]; Posset, Roland [Author]; Hoffmann, Georg F. [Author]; Gleich, Florian [Author]; Garbade, Sven [Author]

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

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    15 June 2017

    Published in: Orphanet journal of rare diseases ; 12(2017) Artikel-Nummer 111, 8 Seiten

  5. Nettesheim, Susanne [Author]; Kölker, Stefan [Author]; Posset, Roland [Author]; Hoffmann, Georg F. [Author]; Gleich, Florian [Author]; Garbade, Sven [Author]

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

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    London: BioMed Central, 15 June 2017

  6. Hörster, Friederike [Author]; Tuncel, Ali Tunç [Author]; Gleich, Florian [Author]; Plessl, Tanja [Author]; Froese, Sean D. [Author]; Garbade, Sven [Author]; Kölker, Stefan [Author]; Baumgartner, Matthias R. [Author]

    Delineating the clinical spectrum of isolated methylmalonic acidurias : cblA and mut

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    2021

    Published in: Journal of inherited metabolic disease ; 44(2021), 1, Seite 193-214

  7. Kožich, Viktor [Author]; Sokolová, Jitka [Author]; Morris, Andrew A. M. [Author]; Pavlíková, Markéta [Author]; Gleich, Florian [Author]; Kölker, Stefan [Author]; Krijt, Jakub [Author]; Dionisi-Vici, Carlo [Author]; Baumgartner, Matthias R. [Author]; Blom, Henk J. [Author]; Huemer, Martina [Author]

    Cystathionine β-synthase deficiency in the E-HOD registry-part I : pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

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    2021

    Published in: Journal of inherited metabolic disease ; 44(2021), 3, Seite 677-692

  8. Opladen, Thomas [Author]; Gleich, Florian [Author]; Kozich, Viktor [Author]; Scarpa, Maurizio [Author]; Martinelli, Diego [Author]; Schaefer, Franz [Author]; Jeltsch, Kathrin [Author]; Juliá-Palacios, Natalia [Author]; García-Cazorla, Ángels [Author]; Dionisi-Vici, Carlo [Author]; Kölker, Stefan [Author]

    U-IMD : the first Unified European registry for inherited metabolic diseases

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    18 February 2021

    Published in: Orphanet journal of rare diseases ; 16(2021), Artikel-ID 95, Seite 1-10

  9. Gräser, Matthias [Author]; Thieben, Florian [Author]; Szwargulski, Patryk [Author]; Werner, Franziska [Author]; Gdaniec, Nadine [Author]; Boberg, Marija [Author]; Griese, Florian [Author]; Möddel, Martin [Author]; Ludewig, Peter [Author]; Ven, Dionys van de [Author]; Weber, Oliver M. [Author]; Woywode, Oliver [Author]; Gleich, Bernhard [Author]; Knopp, Tobias [Author] ; Technische Universität Hamburg, Institute for Biomedical Imaging

    Human-sized magnetic particle imaging for brain applications

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    2019

    Published in: Nature Communications ; Vol.10.2019, 1-9 Seiten, Article number 1936

  10. 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

  11. Schnabel, Elena Ana [Author]; Kölker, Stefan [Author]; Gleich, Florian [Author]; Feyh, Patrik [Author]; Hörster, Friederike [Author]; Haas, Dorothea [Author]; Fang-Hoffmann, Junmin [Author]; Morath, Marina [Author]; Gramer, Gwendolyn [Author]; Röschinger, Wulf [Author]; Garbade, Sven [Author]; Hoffmann, Georg F. [Author]; Okun, Jürgen G. [Author]; Mütze, Ulrike [Author]

    Combined newborn screening allows comprehensive identification also of attenuated phenotypes for methylmalonic acidurias and homocystinuria

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    2023

    Published in: Nutrients ; 15(2023), 15, Artikel-ID 3355, Seite 1-15

  12. Brennenstuhl, Heiko [Author]; Nashawi, Mohammed [Author]; Schröter, Julian [Author]; Baronio, Federico [Author]; Beedgen, Lars [Author]; Gleich, Florian [Author]; Jeltsch, Kathrin [Author]; Landenberg, Christina von [Author]; Martini, Silvia [Author]; Simon, Anna [Author]; Thiel, Christian [Author]; Tsiakas, Konstantinos [Author]; Opladen, Thomas [Author]; Kölker, Stefan [Author]; Hoffmann, Georg F. [Author]; Haas, Dorothea [Author]

    Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria

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    2021

    Published in: Journal of inherited metabolic disease ; 44(2021), 5, Seite 1272-1287

  13. Lossau, Sebastian [Author]; Hoss, Bernhard [Author]; Fürle, Fabian [Author]; Jamei, Said [Author]; Dölle, Norbert [Author]; Liebold, Christian [Author]; Klöppel, Thomas [Author]; Usta, Tolga [Author]; Haufe, André [Author]; Bohne, Florian [Author]; Kose, Kim [Author]; Gleich, Henning [Author]; Beule, Felix [Author]; Al Trjman, Mohamad [Author]; Aubel, Tobias [Author]; Meschut, Gerson [Author]; Facciotto, Silvio [Author]; Sommer, Daniel [Author]; Middendorf, Peter [Author]; Droste, Alexander [Author] ; Mercedes-Benz AG, DYNAmore GmbH, INPRO Innovationsgesellschaft für Fortgeschrittene Produktionssysteme in der Fahrzeugindustrie, Universität Paderborn Laboratorium für Werkstoff- und Fügetechnik, Universität Stuttgart Institut für Flugzeugbau, DuPont Specialty Products, DuPont Specialty Products

    DigiBody - Digitale Prozesskette zur Abbildung und Optimierung der Fügetechnik im Rohbau : gemeinsamer Schlussbericht zum Verbundprojekt : Laufzeit vom 01.04.2019 bis 30.09.2022

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    Sindelfingen: Mercedes-Benz AG, 30.03.2023

  14. Mütze, Ulrike [Author]; Henze, Lucy [Author]; Gleich, Florian [Author]; Lindner, Martin [Author]; Grünert, Sarah [Author]; Spiekerkötter, Ute [Author]; Santer, René [Author]; Blessing, Holger [Author]; Thimm, Eva [Author]; Ensenauer, Regina [Author]; Weigel, Johannes [Author]; Beblo, Skadi [Author]; Arélin, Maria [Author]; Hennermann, Julia B. [Author]; Marquardt, Thorsten [Author]; Marquardt, Iris [Author]; Freisinger, Peter [Author]; Krämer, Johannes [Author]; Dieckmann, Andrea [Author]; Weinhold, Natalie [Author]; Keller, Mareike [Author]; Walter, Magdalena [Author]; Schiergens, Katharina Anna [Author]; Maier, Esther M. [Author]; [...]

    Newborn screening and disease variants predict neurological outcome in isovaleric aciduria

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    25 January 2021

    Published in: Journal of inherited metabolic disease ; 44(2021), 4 vom: 25. Jan., Seite 1-14

  15. Posset, Roland [Author]; Garbade, Sven [Author]; Gleich, Florian [Author]; Nagamani, Sandesh C. S. [Author]; Gropman, Andrea L. [Author]; Epp, Friederike [Author]; Ramdhouni, Nesrine [Author]; Druck, Ann-Catrin [Author]; Hoffmann, Georg F. [Author]; Kölker, Stefan [Author]; Zielonka, Matthias [Author]; Schulze, Andreas [Author]; García-Cazorla, Angeles [Author]; Ficicioglu, Can [Author]; Harding, Cary O. [Author]; Lam, Christina [Author]; Coughlin, Curtis R. [Author]; Le Mons, Cynthia [Author]; Wong, Derek [Author]; Dobbelaere, Dries [Author]; Diaz, George A. [Author]; Berry, Gerard T. [Author]; Enns, Gregory M. [Author]; Wilkening, Greta [Author]; [...]

    Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders

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    March 2024

    Published in: Molecular genetics and metabolism ; 141(2024), 3 vom: März, Artikel-ID 108112, Seite 1-9

  18. Spitta, Gianna; Gleich, Tobias; Rosenthal, Annika; Schubert, Florian; Aydin, Semiha; Heinz, Andreas; Buchert, Ralph; Gallinat, Jürgen

    Correlation of striatal dopamine D2/3 receptor availability with GABA level in the anterior cingulate cortex in healthy controls but not in alcohol‐dependent subjects and individuals at high risk: A multimodal magnetic resonance spectroscopy and positron emission tomography study

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    Wiley, 2024

    Published in: Addiction Biology, 29 (2024) 6