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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 7
2023
Maier, Esther M. 
ORCID: https://orcid.org/0000-0002-4954-4901; Mütze, Ulrike; Janzen, Nils; Steuerwald, Ulrike; Nennstiel, Uta; Odenwald, Birgit; Schuhmann, Elfriede; Lotz‐Havla, Amelie S.; Weiss, Katharina J.; Hammersen, Johanna; Weigel, Corina; Thimm, Eva; Grünert, Sarah C.; Hennermann, Julia B.; Freisinger, Peter; Krämer, Johannes; Das, Anibh M.; Illsinger, Sabine; Gramer, Gwendolyn; Fang‐Hoffmann, Junmin; Garbade, Sven F.; Okun, Jürgen G.; Hoffmann, Georg F.; Kölker, Stefan und Röschinger, Wulf
(2023):
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
In: Journal of Inherited Metabolic Disease, Bd. 46, Nr. 6: S. 1043-1062
[PDF, 2MB]
ORCID: https://orcid.org/0000-0002-4954-4901; Mütze, Ulrike; Janzen, Nils; Steuerwald, Ulrike; Nennstiel, Uta; Odenwald, Birgit; Schuhmann, Elfriede; Lotz‐Havla, Amelie S.; Weiss, Katharina J.; Hammersen, Johanna; Weigel, Corina; Thimm, Eva; Grünert, Sarah C.; Hennermann, Julia B.; Freisinger, Peter; Krämer, Johannes; Das, Anibh M.; Illsinger, Sabine; Gramer, Gwendolyn; Fang‐Hoffmann, Junmin; Garbade, Sven F.; Okun, Jürgen G.; Hoffmann, Georg F.; Kölker, Stefan und Röschinger, Wulf
(2023):
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
In: Journal of Inherited Metabolic Disease, Bd. 46, Nr. 6: S. 1043-1062
[PDF, 2MB]
2022
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
2021
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
2020
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
2018
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
2014
Mayorandan, Sebene; Meyer, Uta; Gokcay, Gülden; Segarra, Nuria Garcia; Baulny, Helene Ogier de; Spronsen, Francjan van; Zeman, Jiri; Laet, Corinne de; Spiekerkoetter, Ute; Thimm, Eva; Maiorana, Arianna; Dionisi-Vici, Carlo; Moeslinger, Dorothea; Brunner-Krainz, Michaela; Lotz-Havla, Amelie Sophia; Cocho de Juan, Jose Angel; Pico, Maria Luz Couce; Santer, Rene; Scholl-Bürgi, Sabine; Mandel, Hanna; Bliksrud, Yngve Thomas; Freisinger, Peter; Aldamiz-Echevarria, Luis Jose; Hochuli, Michel; Gautschi, Matthias; Endig, Jessica; Jordan, Jens; McKiernan, Patrick; Ernst, Stefanie; Morlot, Susanne; Vogel, Arndt; Sander, Johannes und Das, Anibh Martin
(2014):
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
In: Orphanet Journal of Rare Diseases
9:107
[PDF, 1MB]