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Gruppiert nach: Dokumententyp | Veröffentlichungsdatum
Springe zu: Zeitschriftenartikel | Andere
Anzahl der Publikationen: 12

Zeitschriftenartikel

Boy, Nikolas; Muehlhausen, 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; Maertner, E. M. Charlotte; Nuoffer, Jean-Marc; Okun, Jürgen G.; Plecko, Barbara; Posset, Roland; Sahm, Katja; Scholl-Buergi, Sabine; Thimm, Eva; Walter, Magdalena; Williams, Monique; Vom Dahl, Stephan; Ziagaki, Athanasia; Zschocke, Johannes und Koelker, Stefan (2022): Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision. In: Journal of Inherited Metabolic Disease, Bd. 46, Nr. 3: S. 482-519

Gruenert, Sarah C.; Derks, Terry G. J.; Adrian, Katarina; Al-Thihli, Khalid; Ballhausen, Diana; Bidiuk, Joanna; Bordugo, Andrea; Boyer, Monica; Bratkovic, Drago; Brunner-Krainz, Michaela; Burlina, Alberto; Chakrapani, Anupam; Corpeleijn, Willemijn; Cozens, Alison; Dawson, Charlotte; Dhamko, Helena; Milosevic, Maja Djordjevic; Eiroa, Hernan; Finezilber, Yael; Moura de Souza, Carolina Fischinger; Concepcion Garcia-Jimenez, Maria; Gasperini, Serena; Haas, Dorothea; Haeberle, Johannes; Halligan, Rebecca; Fung, Law Hiu; Hoerbe-Blindt, Alexandra; Horka, Laura Maria; Huemer, Martina; Ucar, Sema Kalkan; Kecman, Bozica; Kilavuz, Sebile; Krivan, Gergely; Lindner, Martin; Luesebrink, Natalia; Makrilakis, Konstantinos; Kwok, Anne Mei-Kwun; Maier, Esther M.; Maiorana, Arianna; McCandless, Shawn E.; Mitchell, John James; Mizumoto, Hiroshi; Mundy, Helen; Ochoa, Carlos; Pierce, Kathryn; Quijada Fraile, Pilar; Regier, Debra; Rossi, Alessandro; Santer, Rene; Schuman, Hester C.; Sobieraj, Piotr; Spenger, Johannes; Spiegel, Ronen; Stepien, Karolina M.; Tal, Galit; Tansek, Mojca Zerjav; Torkar, Ana Drole; Tchan, Michel; Thyagu, Santhosh; Vergano, Samantha A. Schrier; Vucko, Erika; Weinhold, Natalie; Zsidegh, Petra und Wortmann, Saskia B. (2022): Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire. In: Genetics in Medicine, Bd. 24, Nr. 8: S. 1781-1788

Maertner, E. M. Charlotte; Thimm, Eva; Guder, Philipp; Schiergens, Katharina A.; Rutsch, Frank; Roloff, Sylvia; Marquardt, Iris; Das, Anibh M.; Freisinger, Peter; Gruenert, Sarah C.; Kraemer, Johannes; Baumgartner, Matthias R.; Beblo, Skadi; Haase, Claudia; Dieckmann, Andrea; Lindner, Martin; Naeke, Andrea; Hoffmann, Georg F.; Muehlhausen, Chris; Walter, Magdalena; Garbade, Sven F.; Maier, Esther M.; Koelker, Stefan und Boy, Nikolas (2021): The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study. In: Scientific Reports, Bd. 11, Nr. 1, 19300

Muetze, Ulrike; Henze, Lucy; Gleich, Florian; Lindner, Martin; Gruenert, Sarah C.; Spiekerkoetter, Ute; Santer, Rene; Blessing, Holger; Thimm, Eva; Ensenauer, Regina; Weigel, Johannes; Beblo, Skadi; Arelin, Maria; Hennermann, Julia B.; Marquardt, Thorsten; Marquardt, Iris; Freisinger, Peter; Kraemer, Johannes; Dieckmann, Andrea; Weinhold, Natalie; Keller, Mareike; Walter, Magdalena; Schiergens, Katharina A.; Maier, Esther M.; Hoffmann, Georg F.; Garbade, Sven F. und Koelker, Stefan (2021): Newborn screening and disease variants predict neurological outcome in isovaleric aciduria. In: Journal of Inherited Metabolic Disease, Bd. 44, Nr. 4: S. 857-870

Maertner, E. M. Charlotte; Maier, Esther M.; Mengler, Katharina; Thimm, Eva; Schiergens, Katharina A.; Marquardt, Thorsten; Santer, Rene; Weinhold, Natalie; Marquardt, Iris; Das, Anibh M.; Freisinger, Peter; Gruenert, Sarah C.; Vossbeck, Judith; Steinfeld, Robert; Baumgartner, Matthias R.; Beblo, Skadi; Dieckmann, Andrea; Naeke, Andrea; Lindner, Martin; Heringer-Seifert, Jana; Lenz, Dominic; Hoffmann, Georg F.; Muehlhausen, Chris; Ensenauer, Regina; Garbade, Sven F.; Koelker, Stefan und Boy, Nikolas (2020): Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study. In: Journal of Inherited Metabolic Disease, Bd. 44, Nr. 3: S. 629-638

Boy, Nikolas; Mengler, Katharina; Thimm, Eva; Schiergens, Katharina A.; Marquardt, Thorsten; Weinhold, Natalie; Marquardt, Iris; Das, Anibh M.; Freisinger, Peter; Gruenert, Sarah C.; Vossbeck, Judith; Steinfeld, Robert; Baumgartner, Matthias R.; Beblo, Skadi; Dieckmann, Andrea; Naeke, Andrea; Lindner, Martin; Heringer, Jana; Hoffmann, Georg F.; Muehlhausen, Chris; Maier, Esther M.; Ensenauer, Regina; Garbade, Sven F. und Koelker, Stefan (2018): Newborn screening: A disease-changing intervention for glutaric aciduria type 1. In: Annals of Neurology, Bd. 83, Nr. 5: S. 970-979

Burgard, Peter; Ullrich, Kurt; Ballhausen, Diana; Hennermann, Julia B.; Hollak, Carla E. M.; Langeveld, Mirjam; Karall, Daniela; Konstantopoulou, Vassiliki; Maier, Esther M.; Lang, Frauke; Lachmann, Robin; Murphy, Elaine; Garbade, Sven; Hoffmann, Georg F.; Kölker, Stefan; Lindner, Martin und Zschocke, Johannes (2017): Issues with European guidelines for phenylketonuria. In: Lancet Diabetes & Endocrinology, Bd. 5, Nr. 9: S. 681-683

Gruenert, Sarah C.; Muellerleile, Stephanie; De Silva, Linda; Barth, Michael; Walter, Melanie; Walter, Kerstin; Meissner, Thomas; Lindner, Martin; Ensenauer, Regina; Santer, Rene; Bodamer, Olaf A.; Baumgartner, Matthias R.; Brunner-Krainz, Michaela; Karall, Daniela; Haase, Claudia; Knerr, Ina; Marquardt, Thorsten; Hennermann, Julia B.; Steinfeld, Robert; Beblo, Skadi; Koch, Hans-Georg; Konstantopoulou, Vassiliki; Scholl-Buergi, Sabine; van Teeffelen-Heithoff, Agnes; Suormala, Terttu; Sperl, Wolfgang; Kraus, Jan P.; Superti-Furga, Andrea; Schwab, Karl Otfried und Sass, Joern Oliver (2013): Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. In: Orphanet Journal of Rare Diseases 8:6 [PDF, 840kB]

Gruenert, Sarah C.; Wendel, Udo; Lindner, Martin; Leichsenring, Michael; Schwab, K. Otfried; Vockley, Jerry; Lehnert, Willy und Ensenauer, Regina (2012): Clinical and neurocognitive outcome in symptomatic isovaleric acidemia. In: Orphanet Journal of Rare Diseases 7:9 [PDF, 425kB]

Andere

Kosiol, Timo ORCID logoORCID: https://orcid.org/0000-0002-8386-5151; Rutkowski, Annemarie ORCID logoORCID: https://orcid.org/0000-0002-7235-5391; Kastorff, Tamara ORCID logoORCID: https://orcid.org/0000-0002-7603-304X; Mohr, Matthias ORCID logoORCID: https://orcid.org/0000-0003-2828-6939; Berger, Sonja ORCID logoORCID: https://orcid.org/0000-0002-0723-4104; Reith, Sabrina ORCID logoORCID: https://orcid.org/0000-0002-6524-4968; Stegmann, Karsten ORCID logoORCID: https://orcid.org/0000-0001-5393-0787; Ufer, Stefan ORCID logoORCID: https://orcid.org/0000-0002-3187-3459; Frick, Dagmar ORCID logoORCID: https://orcid.org/0000-0003-3504-1331; Förtsch, Christian ORCID logoORCID: https://orcid.org/0000-0002-3625-6791; Neuhaus, Birgit ORCID logoORCID: https://orcid.org/0000-0001-6031-9660; Aufleger, Monika; Haldenwang, Vera ORCID logoORCID: https://orcid.org/0000-0002-5476-8723; Teubner, Markus ORCID logoORCID: https://orcid.org/0000-0002-0259-1671; Ludwig, Andrea ORCID logoORCID: https://orcid.org/0000-0002-9429-6628; Fischer, Frank ORCID logoORCID: https://orcid.org/0000-0003-0253-659X; Bannert, Maria ORCID logoORCID: https://orcid.org/0000-0001-7045-2764; Arvaneh, Begüm ORCID logoORCID: https://orcid.org/0000-0003-4537-1932; Meuleners, Julia ORCID logoORCID: https://orcid.org/0000-0001-5123-2950; Gräsel, Cornelia ORCID logoORCID: https://orcid.org/0000-0002-0278-2988; Klausing, Eike; Ripsam, Melanie; Nerdel, Claudia; Held, Tobias; Lindner, Martin; Kofahl, Paula; Ulm, Sonja; Oechslein, Karin und Räde, Anselm (1. März 2023): DigitUS mebis-Metakurs | Erstellung von mebis Kursen. [Andere, 4MB]

Kosiol, Timo ORCID logoORCID: https://orcid.org/0000-0002-8386-5151; Rutkowski, Annemarie ORCID logoORCID: https://orcid.org/0000-0002-7235-5391; Kastorff, Tamara ORCID logoORCID: https://orcid.org/0000-0002-7603-304X; Mohr, Matthias ORCID logoORCID: https://orcid.org/0000-0003-2828-6939; Berger, Sonja ORCID logoORCID: https://orcid.org/0000-0002-0723-4104; Reith, Sabrina ORCID logoORCID: https://orcid.org/0000-0002-6524-4968; Stegmann, Karsten ORCID logoORCID: https://orcid.org/0000-0001-5393-0787; Ufer, Stefan ORCID logoORCID: https://orcid.org/0000-0002-3187-3459; Frick, Dagmar ORCID logoORCID: https://orcid.org/0000-0003-3504-1331; Förtsch, Christian ORCID logoORCID: https://orcid.org/0000-0002-3625-6791; Neuhaus, Birgit ORCID logoORCID: https://orcid.org/0000-0001-6031-9660; Aufleger, Monika; Haldenwang, Vera ORCID logoORCID: https://orcid.org/0000-0002-5476-8723; Teubner, Markus ORCID logoORCID: https://orcid.org/0000-0002-0259-1671; Ludwig, Andrea ORCID logoORCID: https://orcid.org/0000-0002-9429-6628; Fischer, Frank ORCID logoORCID: https://orcid.org/0000-0003-0253-659X; Bannert, Maria ORCID logoORCID: https://orcid.org/0000-0001-7045-2764; Arvaneh, Begüm ORCID logoORCID: https://orcid.org/0000-0003-4537-1932; Meuleners, Julia ORCID logoORCID: https://orcid.org/0000-0001-5123-2950; Gräsel, Cornelia ORCID logoORCID: https://orcid.org/0000-0002-0278-2988; Klausing, Eike; Ripsam, Melanie; Nerdel, Claudia; Held, Tobias; Lindner, Martin; Kofahl, Paula; Ulm, Sonja; Oechslein, Karin und Räde, Anselm (1. März 2023): DigitUS mebis-Kurs | Kurs für Lerngemeinschaften. [Andere, 284MB]

Kosiol, Timo ORCID logoORCID: https://orcid.org/0000-0002-8386-5151; Rutkowski, Annemarie ORCID logoORCID: https://orcid.org/0000-0002-7235-5391; Kastorff, Tamara ORCID logoORCID: https://orcid.org/0000-0002-7603-304X; Mohr, Matthias ORCID logoORCID: https://orcid.org/0000-0003-2828-6939; Berger, Sonja ORCID logoORCID: https://orcid.org/0000-0002-0723-4104; Reith, Sabrina ORCID logoORCID: https://orcid.org/0000-0002-6524-4968; Stegmann, Karsten ORCID logoORCID: https://orcid.org/0000-0001-5393-0787; Ufer, Stefan ORCID logoORCID: https://orcid.org/0000-0002-3187-3459; Frick, Dagmar ORCID logoORCID: https://orcid.org/0000-0003-3504-1331; Förtsch, Christian ORCID logoORCID: https://orcid.org/0000-0002-3625-6791; Neuhaus, Birgit ORCID logoORCID: https://orcid.org/0000-0001-6031-9660; Aufleger, Monika; Haldenwang, Vera ORCID logoORCID: https://orcid.org/0000-0002-5476-8723; Teubner, Markus ORCID logoORCID: https://orcid.org/0000-0002-0259-1671; Ludwig, Andrea ORCID logoORCID: https://orcid.org/0000-0002-9429-6628; Fischer, Frank ORCID logoORCID: https://orcid.org/0000-0003-0253-659X; Bannert, Maria ORCID logoORCID: https://orcid.org/0000-0001-7045-2764; Arvaneh, Begüm ORCID logoORCID: https://orcid.org/0000-0003-4537-1932; Meuleners, Julia ORCID logoORCID: https://orcid.org/0000-0001-5123-2950; Gräsel, Cornelia ORCID logoORCID: https://orcid.org/0000-0002-0278-2988; Klausing, Eike; Ripsam, Melanie; Nerdel, Claudia; Held, Tobias; Lindner, Martin; Kofahl, Paula; Ulm, Sonja; Oechslein, Karin und Räde, Anselm (1. März 2023): DigitUS mebis-Kurs | Materialsammlung für Multiplikatorinnen und Multiplikatoren. [Andere, 126MB]

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