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Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 8
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
Bolsterli, Bigna K.; Boltshauser, Eugen; Palmieri, Luigi; Spenger, Johannes; Brunner-Krainz, Michaela; Distelmaier, Felix; Freisinger, Peter; Geis, Tobias; Gropman, Andrea L.; Haberle, Johannes; Hentschel, Julia; Jeandidier, Bruno; Karall, Daniela; Keren, Boris; Klabunde-Cherwon, Annick; Konstantopoulou, Vassiliki; Kottke, Raimund; Lasorsa, Francesco M.; Makowski, Christine; Mignot, Cyril; Tuura, Ruth O'Gorman; Porcelli, Vito; Santer, Rene; Sen, Kuntal; Steinbruecker, Katja; Syrbe, Steffen; Wagner, Matias; Ziegler, Andreas; Zoeggeler, Thomas; Mayr, Johannes A.; Prokisch, Holger und Wortmann, Saskia B.
(2022):
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.
In: Nutrients, Bd. 14, Nr. 17, 3605
Baumann, Matthias; Schreiber, Herbert; Schlotter-Weigel, Beate; Loescher, Wolfgang N.; Stucka, Rolf; Karall, Daniela; Strom, Tim M.; Bauer, Peter; Krabichler, Birgit; Fauth, Christine; Glaeser, Dieter und Senderek, Jan
(2019):
MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy.
In: Clinical Genetics, Bd. 95, Nr. 1: S. 182-186
Danhauser, Katharina; Alhaddad, Bader; Makowski, Christine; Piekutowska-Abramczuk, Dorota; Syrbe, Steffen; Gomez-Ospina, Natalia; Manning, Melanie A.; Kostera-Pruszczyk, Anna; Krahn-Peper, Claudia; Berutti, Riccardo; Kovacs-Nagy, Reka; Gusic, Mirjana; Graf, Elisabeth; Laugwitz, Lucia; Roeblitz, Michaela; Wroblewski, Andreas; Hartmann, Hans; Das, Anibh M.; Bueltmann, Eva; Fang, Fang; Xu, Manting; Schatz, Ulrich A.; Karall, Daniela; Zellner, Herta; Haberlandt, Edda; Feichtinger, Rene G.; Mayr, Johannes A.; Meitinger, Thomas; Prokisch, Holger; Strom, Tim M.; Ploski, Rafal; Hoffmann, Georg F.; Pronicki, Maciej; Bonnen, Penelope E.; Morlot, Susanne und Haack, Tobias B.
(2018):
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
In: American Journal of Human Genetics, Bd. 103, Nr. 5: S. 817-825
Lotz-Havla, Amelie S.; Röschinger, Wulf; Schiergens, Katharina; Singer, Katharina; Karall, Daniela; Konstantopoulou, Vassiliki; Wortmann, Saskia B. und Maier, Esther M.
(2018):
Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
In: Orphanet Journal of Rare Diseases
13:122
[PDF, 606kB]
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
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]