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  1. Grünert, Sarah [Author]; Eckenweiler, Matthias [Author]; Haas, Dorothea [Author]; Lindner, Martin [Author]; Tsiakas, Konstantinos [Author]; Santer, René [Author]; Tucci, Sara [Author]; Spiekerkötter, Ute [Author]

    The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein

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    Hoboken, NJ: Wiley, 2021

    Published in: Journal of inherited metabolic disease ; 44, 4 (2021), 893-902

  2. Mütze, Ulrike [Author]; Ottenberger, Alina [Author]; Gleich, Florian [Author]; Maier, Esther M. [Author]; Lindner, Martin [Author]; Husain, Ralf [Author]; Palm, Katja [Author]; Beblo, Skadi [Author]; Freisinger, Peter [Author]; Santer, René [Author]; Thimm, Eva [Author]; Vom Dahl, Stephan [Author]; Weinhold, Natalie [Author]; Grohmann-Held, Karina [Author]; Haase, Claudia [Author]; Hennermann, Julia B. [Author]; Hörbe-Blindt, Alexandra [Author]; Kamrath, Clemens [Author]; Marquardt, Iris [Author]; Marquardt, Thorsten [Author]; Behne, Robert Stefan Friedrich [Author]; Haas, Dorothea [Author]; Spiekerkötter, Ute [Author]; Hoffmann, Georg F. [Author]; [...]

    Neurological outcome in long-chain hydroxy fatty acid oxidation disorders

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    23 January 2024

    Published in: Annals of Clinical and Translational Neurology ; 11(2024), 4, Seite 883-898

  3. Märtner, E.M. Charlotte [Author]; Maier, Esther M. [Author]; Mengler, Katharina [Author]; Thimm, Eva [Author]; Schiergens, Katharina A. [Author]; Marquardt, Thorsten [Author]; Santer, René [Author]; Weinhold, Natalie [Author]; Marquardt, Iris [Author]; Das, Anibh M. [Author]; Freisinger, Peter [Author]; Grünert, Sarah C. [Author]; Vossbeck, Judith [Author]; Steinfeld, Robert [Author]; Baumgartner, Matthias R. [Author]; Beblo, Skadi [Author]; Dieckmann, Andrea [Author]; Näke, Andrea [Author]; Lindner, Martin [Author]; Heringer-Seifert, Jana [Author]; Lenz, Dominic [Author]; Hoffmann, Georg F. [Author]; Mühlhausen, Chris [Author]; Ensenauer, Regina [Author]; [...]

    Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1 : a national prospective multi-centre study

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    2021

    Published in: Journal of inherited metabolic disease ; 44(2021), 3, Seite 629-638

  4. 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

  5. Bölsterli, Bigna K. [Author]; Boltshauser, Eugen [Author]; Palmieri, Luigi [Author]; Spenger, Johannes [Author]; Brunner-Krainz, Michaela [Author]; Distelmaier, Felix [Author]; Freisinger, Peter [Author]; Geis, Tobias [Author]; Gropman, Andrea L. [Author]; Häberle, Johannes [Author]; Hentschel, Julia [Author]; Jeandidier, Bruno [Author]; Karall, Daniela [Author]; Keren, Boris [Author]; Klabunde-Cherwon, Annick [Author]; Konstantopoulou, Vassiliki [Author]; Kottke, Raimund [Author]; Lasorsa, Francesco M. [Author]; Makowski, Christine [Author]; Mignot, Cyril [Author]; O'Gorman Tuura, Ruth [Author]; Porcelli, Vito [Author]; Santer, René [Author]; Sen, Kuntal [Author]; [...]

    Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier

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    Basel: MDPI, [2023]

    Published in: Nutrients ; 14, (2022)

  6. Kuseyri Hübschmann, Oya [Author]; Mohr, Alexander [Author]; Friedman, Jennifer [Author]; Manti, Filippo [Author]; Horvath, Gabriella [Author]; Cortès-Saladelafont, Elisenda [Author]; Mercimek-Andrews, Saadet [Author]; Yildiz, Yilmaz [Author]; Pons, Roser [Author]; Kulhánek, Jan [Author]; Oppebøen, Mari [Author]; Koht, Jeanette Aimee [Author]; Podzamczer-Valls, Inés [Author]; Domingo-Jimenez, Rosario [Author]; Ibáñez, Salvador [Author]; Alcoverro-Fortuny, Oscar [Author]; Gómez-Alemany, Teresa [Author]; de Castro, Pedro [Author]; Alfonsi, Chiara [Author]; Zafeiriou, Dimitrios I. [Author]; López-Laso, Eduardo [Author]; Guder, Philipp [Author]; Santer, René [Author]; Honzík, Tomáš [Author]; [...]

    Brain MR patterns in inherited disorders of monoamine neurotransmitters : an analysis of 70 patients

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    July 2021

    Published in: Journal of inherited metabolic disease ; 44(2021), 4 vom: Juli, Seite 1070-1082

  7. Vogel, Georg [Author]; Mozer-Glassberg, Yael [Author]; Landau, Yuval E. [Author]; Schlieben, Lea D. [Author]; Prokisch, Holger [Author]; Feichtinger, René G. [Author]; Mayr, Johannes A. [Author]; Brennenstuhl, Heiko [Author]; Schröter, Julian [Author]; Pechlaner, Agnes [Author]; Alkuraya, Fowzan S. [Author]; Baker, Joshua J. [Author]; Barcia, Giulia [Author]; Baric, Ivo [Author]; Braverman, Nancy [Author]; Burnyte, Birute [Author]; Christodoulou, John [Author]; Ciara, Elzbieta [Author]; Coman, David [Author]; Das, Anibh M. [Author]; Darin, Niklas [Author]; Della Marina, Adela [Author]; Distelmaier, Felix [Author]; Eklund, Erik A. [Author]; [...]

    Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

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    June 2023

    Published in: Genetics in medicine ; 25(2023), 6 vom: Juni, Artikel-ID 100314, Seite 1-16

  8. Kuseyri Hübschmann, Oya [Author]; Horvath, Gabriella [Author]; Cortès-Saladelafont, Elisenda [Author]; Yıldız, Yılmaz [Author]; Pons, Roser [Author]; Friedman, Jennifer [Author]; Mercimek-Andrews, Saadet [Author]; Wong, Suet-Na [Author]; Pearson, Toni S. [Author]; Zafeiriou, Dimitrios I. [Author]; Kulhánek, Jan [Author]; Kurian, Manju A. [Author]; López-Laso, Eduardo [Author]; Oppebøen, Mari [Author]; Kılavuz, Sebile [Author]; Wassenberg, Tessa [Author]; Goez, Helly [Author]; Scholl-Bürgi, Sabine [Author]; Porta, Francesco [Author]; Honzík, Tomáš [Author]; Santer, René [Author]; Burlina, Alberto [Author]; Sivri, H. Serap [Author]; Leuzzi, Vincenzo [Author]; [...]

    Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

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    20 September 2021

    Published in: Nature Communications ; 12(2021), Artikel-ID 5529, Seite 1-13

  10. Lenz, Dominic [Author]; Schlieben, Lea D. [Author]; Shimura, Masaru [Author]; Bianzano, Alyssa [Author]; Smirnov, Dmitrii [Author]; Kopajtich, Robert [Author]; Berutti, Riccardo [Author]; Adam, Rüdiger [Author]; Aldrian, Denise [Author]; Baric, Ivo [Author]; Baumann, Ulrich [Author]; Bozbulut, Neslihan E. [Author]; Brugger, Melanie [Author]; Brunet, Theresa [Author]; Bufler, Philip [Author]; Burnytė, Birutė [Author]; Calvo, Pier L. [Author]; Crushell, Ellen [Author]; Dalgiç, Buket [Author]; Das, Anibh M. [Author]; Dezsőfi, Antal [Author]; Distelmaier, Felix [Author]; Fichtner, Alexander [Author]; Freisinger, Peter [Author]; [...]

    Genetic landscape of pediatric acute liver failure of indeterminate origin

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    May 2024

    Published in: Hepatology ; 79(2024), 5 vom: Mai, Seite 1075-1087

  17. Langer, Sara; Waterstradt, Rica; Hillebrand, Georg; Santer, René; Baltrusch, Simone

    The novel GCK variant p.Val455Leu associated with hyperinsulinism is susceptible to allosteric activation and is conducive to weight gain and the development of diabetes

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    Springer Science and Business Media LLC, 2021

    Published in: Diabetologia, 64 (2021) 12, Seite 2687-2700