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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
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