Search Results - Freisinger, Peter

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  1. 1
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    Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: consensus group recommendations from the German-speaking countries by Das, Anibh Martin (Author) , Ballhausen, Diana (Author) , Haas, Dorothea (Author) , Häberle, Johannes (Author) , Hagedorn, Tobias (Author) , Janson-Mutsaerts, Cecilia (Author) , Janzen, Nils (Author) , Sander, Johannes (Author) , Freisinger, Peter (Author) , Karall, Daniela (Author) , Meyer, Uta (Author) , Mönch, Eberhard (Author) , Morlot, Susanne (Author) , Rosenbaum-Fabian, Stefanie (Author) , Scholl-Bürgi, Sabine (Author) , Vom Dahl, Stephan (Author) , Weinhold, Natalie (Author) , Zeman, Jiri (Author) , Lange, Karin (Author) ,


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  2. 2
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    Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening by Schnabel-Besson, Elena (Author) , Garbade, Sven (Author) , Gleich, Florian (Author) , Grünert, Sarah C. (Author) , Krämer, Johannes (Author) , Thimm, Eva (Author) , Hennermann, Julia B. (Author) , Freisinger, Peter (Author) , Burgard, Peter (Author) , Gramer, Gwendolyn (Author) , Morath, Marina (Author) , Tuncel, Ali Tunç (Author) , Lommer-Steinhoff, Svenja (Author) , Hoffmann, Georg F. (Author) , Kölker, Stefan (Author) , Mütze, Ulrike (Author) ,


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  3. 3
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    Neurological outcome in long-chain hydroxy fatty acid oxidation disorders by 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) , Garbade, Sven (Author) , Grünert, Sarah (Author) , Kölker, Stefan (Author) ,


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  4. 4
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    Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias by Reischl-Hajiabadi, Anna Theresa (Author) , Schnabel-Besson, Elena (Author) , Gleich, Florian (Author) , Mengler, Katharina (Author) , Lindner, Martin (Author) , Burgard, Peter (Author) , Posset, Roland (Author) , Lommer-Steinhoff, Svenja (Author) , Grünert, Sarah (Author) , Thimm, Eva (Author) , Freisinger, Peter (Author) , Hennermann, Julia B. (Author) , Krämer, Johannes (Author) , Gramer, Gwendolyn (Author) , Lenz, Dominic (Author) , Christ, Stine (Author) , Hörster, Friederike (Author) , Hoffmann, Georg F. (Author) , Garbade, Sven (Author) , Kölker, Stefan (Author) , Mütze, Ulrike (Author) ,


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  5. 5
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    Genetic landscape of pediatric acute liver failure of indeterminate origin by 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) , Garbade, Sven (Author) , Gaspar, Harald (Author) , Goujon, Louise (Author) , Hadzic, Nedim (Author) , Hartleif, Steffen (Author) , Hegen, Bianca (Author) , Hempel, Maja (Author) , Henning, Stephan (Author) , Hoerning, Andre (Author) , Houwen, Roderick (Author) , Hughes, Joanne (Author) , Iorio, Raffaele (Author) , Iwanicka-Pronicka, Katarzyna (Author) , Jankofsky, Martin (Author) , Junge, Norman (Author) , Kanavaki, Ino (Author) , Kansu, Aydan (Author) , Kaspar, Sonja (Author) , Kathemann, Simone (Author) , Kelly, Deidre (Author) , Kirsaçlioğlu, Ceyda T. (Author) , Knoppke, Birgit (Author) , Kohl, Martina (Author) , Kölbel, Heike (Author) , Kölker, Stefan (Author) , Konstantopoulou, Vassiliki (Author) , Krylova, Tatiana (Author) , Kuloğlu, Zarife (Author) , Kuster, Alice (Author) , Laass, Martin W. (Author) , Lainka, Elke (Author) , Lurz, Eberhard (Author) , Mandel, Hanna (Author) , Mayerhanser, Katharina (Author) , Mayr, Johannes A. (Author) , McKiernan, Patrick (Author) , McClean, Patricia (Author) , McLin, Valerie (Author) , Mention, Karine (Author) , Müller, Hanna (Author) , Pasquier, Laurent (Author) , Pavlov, Martin (Author) , Pechatnikova, Natalia (Author) , Peters, Bianca (Author) , Petković Ramadža, Danijela (Author) , Piekutowska-Abramczuk, Dorota (Author) , Pilic, Denisa (Author) , Rajwal, Sanjay (Author) , Rock, Nathalie (Author) , Roetig, Agnès (Author) , Santer, René (Author) , Schenk, Wilfried (Author) , Semenova, Natalia (Author) , Sokollik, Christiane (Author) , Sturm, Ekkehard (Author) , Taylor, Robert W. (Author) , Tschiedel, Eva (Author) , Urbonas, Vaidotas (Author) , Urreizti, Roser (Author) , Vermehren, Jan (Author) , Vockley, Jerry (Author) , Vogel, Georg-Friedrich (Author) , Wagner, Matias (Author) , van der Woerd, Wendy (Author) , Wortmann, Saskia B. (Author) , Zakharova, Ekaterina (Author) , Hoffmann, Georg F. (Author) , Meitinger, Thomas (Author) , Murayama, Kei (Author) , Staufner, Christian (Author) , Prokisch, Holger (Author) ,


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  6. 6
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    Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease by Hammann, Nicole Irene (Author) , Lenz, Dominic (Author) , Baric, Ivo (Author) , Crushell, Ellen (Author) , Vici, Carlo Dionisi (Author) , Distelmaier, Felix (Author) , Feillet, Francois (Author) , Freisinger, Peter (Author) , Hempel, Maja (Author) , Khoreva, Anna L. (Author) , Laass, Martin W. (Author) , Lacassie, Yves (Author) , Lainka, Elke (Author) , Larson-Nath, Catherine (Author) , Li, Zhongdie (Author) , Lipiński, Patryk (Author) , Lurz, Eberhard (Author) , Mégarbané, André (Author) , Nobre, Susana (Author) , Olivieri, Giorgia (Author) , Peters, Bianca (Author) , Prontera, Paolo (Author) , Schlieben, Lea D. (Author) , Seroogy, Christine M. (Author) , Sobacchi, Cristina (Author) , Suzuki, Shigeru (Author) , Tran, Christel (Author) , Vockley, Jerry (Author) , Wang, Jian-She (Author) , Wagner, Matias (Author) , Prokisch, Holger (Author) , Garbade, Sven (Author) , Kölker, Stefan (Author) , Hoffmann, Georg F. (Author) , Staufner, Christian (Author) ,


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  7. 7
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    Does hyperphenylalaninemia induce brain glucose hypometabolism?: Cerebral spinal fluid findings in treated adult phenylketonuric patients by Trefz, Friedrich K. (Author) , Frauendienst-Egger, Georg (Author) , Dienel, Gerald (Author) , Cannet, Claire (Author) , Schmidt-Mader, Brigitte (Author) , Haas, Dorothea (Author) , Blau, Nenad (Author) , Himmelreich, Nastassja (Author) , Spraul, Manfred (Author) , Freisinger, Peter (Author) , Dobrowolski, Steven (Author) , Berg, Daniela (Author) , Pilotto, Andrea (Author) ,


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  8. 8
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    Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples by Maier, Esther M. (Author) , Mütze, Ulrike (Author) , Janzen, Nils (Author) , Steuerwald, Ulrike (Author) , Nennstiel-Ratzel, Uta (Author) , Odenwald, Birgit (Author) , Schuhmann, Elfriede (Author) , Lotz-Havla, Amelie S. (Author) , Weiss, Katharina J. (Author) , Hammersen, Johanna (Author) , Weigel, Corina (Author) , Thimm, Eva (Author) , Grünert, Sarah (Author) , Hennermann, Julia B. (Author) , Freisinger, Peter (Author) , Krämer, Johannes (Author) , Das, Anibh M. (Author) , Illsinger, Sabine (Author) , Gramer, Gwendolyn (Author) , Fang-Hoffmann, Junmin (Author) , Garbade, Sven (Author) , Okun, Jürgen G. (Author) , Hoffmann, Georg F. (Author) , Kölker, Stefan (Author) , Röschinger, Wulf (Author) ,


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  9. 9
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    Ketogenic diet treatment of defects in the mitochondrial malate aspartate shuttle and pyruvate carrier by Bölsterli Heinzle, Bigna (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) , Steinbrücker, Katja (Author) , Syrbe, Steffen (Author) , Wagner, Matias (Author) , Ziegler, Andreas (Author) , Zöggeler, Thomas (Author) , Mayr, Johannes A. (Author) , Prokisch, Holger (Author) , Wortmann, Saskia B. (Author) ,


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  10. 10
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    Clinical implementation of RNA sequencing for Mendelian disease diagnostics by Yépez, Vicente (Author) , Gusic, Mirjana (Author) , Kopajtich, Robert (Author) , Mertes, Christian (Author) , Smith, Nicholas H. (Author) , Alston, Charlotte L. (Author) , Ban, Rui (Author) , Beblo, Skadi (Author) , Berutti, Riccardo (Author) , Blessing, Holger (Author) , Ciara, Elzbieta (Author) , Distelmaier, Felix (Author) , Freisinger, Peter (Author) , Haeberle, Johannes (Author) , Hayflick, Susan J. (Author) , Hempel, Maja (Author) , Itkis, Yulia S. (Author) , Kishita, Yoshihito (Author) , Klopstock, Thomas (Author) , Krylova, Tatiana D. (Author) , Lamperti, Costanza (Author) , Lenz, Dominic (Author) , Makowski, Christine (Author) , Mosegaard, Signe (Author) , Mueller, Michaela F. (Author) , Munoz-Pujol, Gerard (Author) , Nadel, Agnieszka (Author) , Ohtake, Akira (Author) , Okazaki, Yasushi (Author) , Procopio, Elena (Author) , Schwarzmayr, Thomas (Author) , Smet, Joel (Author) , Staufner, Christian (Author) , Stenton, Sarah L. (Author) , Strom, Tim M. (Author) , Terrile, Caterina (Author) , Tort, Frederic (Author) , Van Coster, Rudy (Author) , Vanlander, Arnaud (Author) , Wagner, Matias (Author) , Xu, Manting (Author) , Fang, Fang (Author) , Ghezzi, Daniele (Author) , Mayr, Johannes A. (Author) , Piekutowska-Abramczuk, Dorota (Author) , Ribes, Antonia (Author) , Roetig, Agnes (Author) , Taylor, Robert W. (Author) , Wortmann, Saskia B. (Author) , Murayama, Kei (Author) , Meitinger, Thomas (Author) , Gagneur, Julien (Author) , Prokisch, Holger (Author) ,


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  11. 11
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    Newborn screening and disease variants predict neurological outcome in isovaleric aciduria by 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) , Hoffmann, Georg F. (Author) , Garbade, Sven (Author) , Kölker, Stefan (Author) ,


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  12. 12
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    Phenylalanine effects on brain function in adult Phenylketonuria by Pilotto, Andrea (Author) , Zipser, Carl M. (Author) , Leks, Edytha (Author) , Haas, Dorothea (Author) , Gramer, Gwendolyn (Author) , Freisinger, Peter (Author) , Schaeffer, Eva (Author) , Liepelt-Scarfone, Inga (Author) , Brockmann, Kathrin (Author) , Maetzler, Walter (Author) , Schulte, Claudia (Author) , Deuschle, Christian (Author) , Hauser, Ann Kathrin (Author) , Hoffmann, Georg F. (Author) , Scheffler, Klaus (Author) , Spronsen, Francjan J. van (Author) , Padovani, Alessandro (Author) , Trefz, Friedrich K. (Author) , Berg, Daniela (Author) ,


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  13. 13
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    Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label... by Muntau, Ania (Author) , Burlina, Alberto (Author) , Eyskens, François (Author) , Freisinger, Peter (Author) , Leuzzi, Vincenzo (Author) , Sivri, Hatice Serap (Author) , Gramer, Gwendolyn (Author) , Pazdírková, Renata (Author) , Cleary, Maureen (Author) , Lotz-Havla, Amelia S. (Author) , Lane, Paul (Author) , Alvarez, Ignacio (Author) , Rutsch, Frank (Author) ,


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  14. 14
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    The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study by Märtner, E.M. Charlotte (Author) , Thimm, Eva (Author) , Guder, Philipp (Author) , Schiergens, Katharina A. (Author) , Rutsch, Frank (Author) , Roloff, Sylvia (Author) , Marquardt, Iris (Author) , Das, Anibh M. (Author) , Freisinger, Peter (Author) , Grünert, Sarah (Author) , Krämer, Johannes (Author) , Baumgartner, Matthias R. (Author) , Beblo, Skadi (Author) , Haase, Claudia (Author) , Dieckmann, Andrea (Author) , Lindner, Martin (Author) , Näke, Andrea (Author) , Hoffmann, Georg F. (Author) , Mühlhausen, Chris (Author) , Walter, Magdalena (Author) , Garbade, Sven (Author) , Maier, Esther M. (Author) , Kölker, Stefan (Author) , Boy, Nikolas (Author) ,


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  15. 15
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    Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: a national prospective multi-centre study by 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) , Garbade, Sven (Author) , Kölker, Stefan (Author) , Boy, Nikolas (Author) ,


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  16. 16
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    Subdural hematoma in glutaric aciduria type 1: high excreters are prone to incidental SDH despite newborn screening by Boy, Nikolas (Author) , Mohr, Alexander (Author) , Garbade, Sven (Author) , Freisinger, Peter (Author) , Heringer-Seifert, Jana (Author) , Seitz, Angelika (Author) , Kölker, Stefan (Author) , Harting, Inga (Author) ,


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  17. 17
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    Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investiga... by Cannet, Claire (Author) , Pilotto, Andrea (Author) , Rocha, Júlio César (Author) , Schäfer, Hartmut (Author) , Spraul, Manfred (Author) , Berg, Daniela (Author) , Nawroth, Peter Paul (Author) , Kasperk, Christian (Author) , Gramer, Gwendolyn (Author) , Haas, Dorothea (Author) , Piel, David (Author) , Kölker, Stefan (Author) , Hoffmann, Georg F. (Author) , Freisinger, Peter (Author) , Trefz, Friedrich K. (Author) ,


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  18. 18
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    Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: expanding the neurological spectrum and therapeutic approaches by Illsinger, Sabine (Author) , Korenke, Christoph (Author) , Boesch, Sylvia (Author) , Nocker, Michael (Author) , Karall, Daniela (Author) , Nuoffer, Jean M. (Author) , Laugwitz, Lucia (Author) , Mayr, Johannes A. (Author) , Scholl-Bürgi, Sabine (Author) , Freisinger, Peter (Author) , Kowald, Tobias (Author) , Kölker, Stefan (Author) , Prokisch, Holger (Author) , Haack, Tobias B. (Author) ,


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  19. 19
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    Long-term outcomes of individuals with metabolic diseases identified through newborn screening by Mütze, Ulrike (Author) , Garbade, Sven (Author) , Gramer, Gwendolyn (Author) , Lindner, Martin (Author) , Freisinger, Peter (Author) , Grünert, Sarah (Author) , Hennermann, Julia (Author) , Ensenauer, Regina (Author) , Thimm, Eva (Author) , Zirnbauer, Judith (Author) , Leichsenring, Michael (Author) , Gleich, Florian (Author) , Hörster, Friederike (Author) , Grohmann-Held, Karina (Author) , Boy, Nikolas (Author) , Fang-Hoffmann, Junmin (Author) , Burgard, Peter (Author) , Walter, Magdalena (Author) , Hoffmann, Georg F. (Author) , Kölker, Stefan (Author) ,


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  20. 20
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    Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria by Pilotto, Andrea (Author) , Blau, Nenad (Author) , Leks, Edytha (Author) , Schulte, Claudia (Author) , Deuschl, Christian (Author) , Zipser, Carl (Author) , Piel, David (Author) , Freisinger, Peter (Author) , Gramer, Gwendolyn (Author) , Kölker, Stefan (Author) , Haas, Dorothea (Author) , Burgard, Peter (Author) , Nawroth, Peter (Author) , Hoffmann, Georg F. (Author) , Scheffler, Klaus (Author) , Berg, Daniela (Author) , Trefz, Friedrich K. (Author) ,


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