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Publications by Maier, Esther M.

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Number of items: 12.

2020

Havla, Joachim; Moser, Marlene; Sztatecsny, Clara; Lotz-Havla, Amelie S.; Maier, Esther M.; Hizli, Baccara; Schinner, Regina; Kümpfel, Tania; Strupp, Michael; Bremova-Ertl, Tatiana; Schneider, Susanne A, (2020): Retinal axonal degeneration in Niemann–Pick type C disease. In: Journal of Neurology, Vol. 267: pp. 2070-2082 [PDF, 1MB]

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.; Koelker, Stefan (2018): Newborn screening: A disease-changing intervention for glutaric aciduria type 1. In: Annals of Neurology, Vol. 83, No. 5: pp. 970-979

Schiergens, Katharina A.; Staudigl, Michael; Borggraefe, Ingo; Maier, Esther M. (2018): Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated. In: Neuropediatrics, Vol. 49, No. 6: pp. 363-368

Lotz-Havla, Amelie S.; Röschinger, Wulf; Schiergens, Katharina; Singer, Katharina; Karall, Daniela; Konstantopoulou, Vassiliki; Wortmann, Saskia B.; 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]

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; Kolker, Stefan (2017): Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. In: Journal of inherited metabolic disease, Vol. 40, No. 1: pp. 75-101

Rujano, Maria A.; Serio, Magda Cannata; Panasyuk, Ganna; P, Romain Anne; Reunert, Janine; Rymen, Daisy; Hauser, Virginie; Park, Julien H.; Freisinger, Peter; Souche, Erika; Guida, Maria Clara; Maier, Esther M.; Wada, Yoshinao; Jager, Stefanie; Krogan, Nevan J.; Kretz, Oliver; Nobre, Susana; Garcia, Paula; Quelhas, Dulce; Bird, Thomas D.; Raskind, Wendy H.; Schwake, Michael; Duvet, Sandrine; Foulquier, Francois; Matthijs, Gert; Marquardt, Thorsten; Simons, Matias (2017): Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects. In: Journal of Experimental Medicine, Vol. 214, No. 12: pp. 3707-3729

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; Zschocke, Johannes (2017): Issues with European guidelines for phenylketonuria. In: Lancet Diabetes & Endocrinology, Vol. 5, No. 9: pp. 681-683

2016

Zech, Michael; Boesch, Sylvia; Maier, Esther M.; Borggraefe, Ingo; Vill, Katharina; Laccone, Franco; Pilshofer, Veronika; Ceballos-Baumann, Andres; Alhaddad, Bader; Berutti, Riccardo; Poewe, Werner; Haack, Tobias B.; Haslinger, Bernhard; Strom, Tim M.; Winkelmann, Juliane (2016): Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia. In: American Journal of Human Genetics, Vol. 99, No. 6: pp. 1377-1387

2015

Koch, Johannes; Freisinger, Peter; Feichtinger, Rene G.; Zimmermann, Franz A.; Rauscher, Christian; Wagentristl, Hans P.; Konstantopoulou, Vassiliki; Seidl, Rainer; Haack, Tobias B.; Prokisch, Holger; Ahting, Uwe; Sperl, Wolfgang; Mayr, Johannes A.; Maier, Esther M. (2015): Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype. In: Orphanet Journal of Rare Diseases 10:40 [PDF, 2MB]

2014

Jank, Johanna M.; Maier, Esther M.; Reiss, Dunja D.; Haslbeck, Martin; Kemter, Kristina F.; Truger, Marietta S.; Sommerhoff, Christian P.; Ferdinandusse, Sacha; Wanders, Ronald J.; Gersting, Soren W.; Muntau, Ania C. (2014): The Domain-Specific and Temperature-Dependent Protein Misfolding Phenotype of Variant Medium-Chain acyl-CoA Dehydrogenase.
In: PLOS ONE 9(4), e93852 [PDF, 1MB]

2013

Maier, Esther M.; Hege, Inga; Muntau, Ania C.; Huber, Johanna; Fischer, Martin R. (2013): What are effects of a spaced activation of virtual patients in a pediatric course? In: BMC Medical Education 13:45 [PDF, 538kB]

2006

Huppke, P.; Maier, Esther M.; Warnke, A.; Brendel, C.; Laccone, F.; Gärtner, J. (2006): Very mild cases of Rett syndrome with skewed X inactivation. In: Journal of Medical Genetics, Vol. 43: pp. 814-816 [PDF, 281kB]

This list was generated on Sun Sep 20 03:58:53 2020 CEST.