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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 4
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
Saffari, Afshin; Cannet, Claire; Blaschek, Astrid; Hahn, Andreas; Hoffmann, Georg F.; Johannsen, Jessika; Kirsten, Romy; Kockaya, Musa; Kölker, Stefan; Müller-Felber, Wolfgang; Roos, Andreas; Schäfer, Hartmut; Schara, Ulrike; Spraul, Manfred; Trefz, Friedrich K.; Vill, Katharina; Wick, Wolfgang; Weiler, Markus; Okun, Jürgen G. und Ziegler, Andreas
(2021):
H-1-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy.
In: Orphanet Journal of Rare Diseases, Bd. 16, Nr. 1, 441
2017
Boy, Nikolas; Mühlhausen, Chris; Maier, Esther M.; Heringer, Jana; Assmann, Birgit; Burgard, Peter; Dixon, Marjorie; Fleissner, Sandra; Greenberg, Cheryl R.; Harting, Inga; Hoffmann, Georg F.; Karall, Daniela; Koeller, David M.; Krawinkel, Michael; Okun, Jürgen G.; Opladen, Thomas; Posset, Roland; Sahm, Katja; Zschocke, Johannes und Kolker, Stefan
(2017):
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
In: Journal of inherited metabolic disease, Bd. 40, Nr. 1: S. 75-101