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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 2
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
2015
Haack, Tobias B.; Jackson, Christopher B.; Murayama, Kei; Kremer, Laura S.; Schaller, André; Kotzaeridou, Urania; Vries, Maaike C. de; Schottmann, Gudrun; Santra, Saikat; Büchner, Boriana; Wieland, Thomas; Graf, Elisabeth; Freisinger, Peter; Eggimann, Sandra; Ohtake, Akira; Okazaki, Yasushi; Kohda, Masakazu; Kishita, Yoshihito; Tokuzawa, Yoshimi; Sauer, Sascha; Memari, Yasin; Kolb-Kokocinski, Anja; Durbin, Richard; Hasselmann, Oswald; Cremer, Kirsten; Albrecht, Beate; Wieczorek, Dagmar; Engels, Hartmut; Hahn, Dagmar; Zink, Alexander M.; Alston, Charlotte L.; Taylor, Robert W.; Rodenburg, Richard J.; Trollmann, Regina; Sperl, Wolfgang; Strom, Tim M.; Hoffmann, Georg F.; Mayr, Johannes A.; Meitinger, Thomas; Bolognini, Ramona; Schuelke, Markus; Nuoffer, Jean-Marc; Kölker, Stefan; Prokisch, Holger und Klopstock, Thomas
(2015):
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
In: Annals of Clinical and Translational Neurology, Bd. 2, Nr. 5: S. 492-509