Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Esther M. Glahn"'
Autor:
Rhea van den Bruck, Patrick P. Weil, Thomas Ziegenhals, Philipp Schreiner, Stefan Juranek, Daniel Gödde, Silvia Vogel, Frauke Schuster, Valerie Orth, Johannes Dörner, Daniel Pembaur, Meike Röper, Stefan Störkel, Hubert Zirngibl, Stefan Wirth, Andreas C. W. Jenke, Jan Postberg, Nikolas Boy, Jana Heringer, Gisela Haege, Esther M. Glahn, Georg F. Hoffmann, Sven F. Garbade, Peter Burgard, Stefan Kölker, Cho-Ming Chao, Faady Yahya, Alena Moiseenko, Amit Shrestha, Negah Ahmadvand, Jennifer Quantius, Jochen Wilhelm, Elie El-Agha, Klaus-Peter Zimmer, Saverio Bellusci, Christian Staufner, Holger Prokisch, Stephan Seeliger, Matthias Müller, Andreas Hippe, Henrik Steinkraus, Roland Wauer, Burkhard Lachmann, Sigrun R. Hofmann, Christian M. Hedrich, Jakob Zierk, Farhad Arzideh, Rainer Haeckel, Wolfgang Rascher, Manfred Rauh, Markus Metzler, Sebastian Thieme, Joanna Bandoła, Cornelia Richter, Martin Ryser, Arshad Jamal, Michelle P. Ashton, Malte von Bonin, Matthias Kuhn, Ezio Bonifacio, Reinhard Berner, Sebastian Brenner, Johanna Hammersen, Cristina Has, Nora Naumann-Bartsch, Daniel Stachel, Dimitra Kiritsi, Stephan Söder, Mathilde Tardieu, Leena Bruckner-Tuderman, Holm Schneider, F. Bohne, D. Langer, R. Cencic, T. Eggermann, U. Zechner, J. Pelletier, F. Zepp, T. Enklaar, D. Prawitt, Martin Pech, Markus Weckmann, Femke-Anouska Heinsen, Andre Franke, Christine Happle, Anna-Maria Dittrich, Gesine Hansen, Oliver Fuchs, Erika von Mutius, Brian G. Oliver, Matthias V. Kopp, Claudia Paret, Alexandra Russo, Johanna Theruvath, Bettina Keller, Khalifa El Malki, Nadine Lehmann, Arthur Wingerter, Marie A. Neu, Gerhold-Ay Aslihan, Wolfgang Wagner, Clemens Sommer, Torsten Pietsch, Larissa Seidmann, Jörg Faber, Felix Schreiner, Merle Ackermann, Michael Michalik, Eva Rother, Andras Bilkei-Gorzo, Ildiko Racz, Laura Bindila, Beat Lutz, Jörg Dötsch, Andreas Zimmer, Joachim Woelfle, Hendrik S. Fischer, Tim L. Ullrich, Christoph Bührer, Christoph Czernik, Gerd Schmalisch, Robert Stein, Judith Hagenbuchner, Ursula Kiechl-Kohlendorfer, Petra Obexer, Michael J. Ausserlechner, Niki T. Loges, Adrien Tobias Frommer, Julia Wallmeier, Heymut Omran, Soner Öner-Sieben, Martina Gimpfl, Jan Rozman, Martin Irmler, Johannes Beckers, Martin Hrabe De Angelis, Adelbert Roscher, Eckhard Wolf, Regina Ensenauer, Karolina Nemes, Michael Frühwald, Martin Hasselblatt, Reiner Siebert, Uwe Kordes, Marcel Kool, Haicui Wang, Holly Hardy, Osama Refai, Katy E. S. Barwick, Holly H. Zimmerman, Joachim Weis, Emma L. Baple, Andrew H. Crosby, Sebahattin Cirak, C. Hellmuth, O. Uhl, M. Standl, J. Heinrich, E. Thiering, B. Koletzko, Lena Blümel, Kornelius Kerl, Daniel Picard, Michael C. Frühwald, Max C. Liebau, Guido Reifenberger, Arndt Borkhardt, Marc Remke, D. Tews, M. Wabitsch, P. Fischer-Posovszky, Mike-Andrew Westhoff, Lisa Nonnenmacher, Julia Langhans, Lukas Schneele, Nancy Trenkler, Klaus-Michael Debatin
Publikováno v:
Mol. Cell. Pediatr. 4, 1:5 (2017)
Autor:
Christian Staufner, Martin Lindner, Matthias R. Baumgartner, Michel Hochuli, Stefan Kölker, Amelie S. Lotz-Havla, Anibh M. Das, Julia B. Hennermann, Corinne M. Rüegger, Sarah C. Grünert, Daniela Karall, Tamar Stricker, Ute Spiekerkoetter, Dorothea Möslinger, Diana Ballhausen, Frits A. Wijburg, Peter Burgard, Skadi Beblo, Martina Huemer, Barbara Plecko, Johannes Häberle, Matthias Gautschi, Frank Rutsch, Jean-Marc Nuoffer, René Santer, Robin H. Lachmann, Monique Williams, Esther M. Glahn
Publikováno v:
Journal of Inherited Metabolic Disease, 37(1), 21-30. Springer Netherlands
Europe PubMed Central
Rüegger, Corinne M; Lindner, Martin; Ballhausen, Diana; Baumgartner, Matthias R; Beblo, Skadi; Das, Anibh; Gautschi, Matthias; Glahn, Esther M; Grünert, Sarah C; Hennermann, Julia; Hochuli, Michel; Huemer, Martina; Karall, Daniela; Kölker, Stefan; Lachmann, Robin H; Lotz-Havla, Amelie; Möslinger, Dorothea; Nuoffer, Jean-Marc; Plecko, Barbara; Rutsch, Frank; ... (2013). Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. Journal of inherited metabolic disease, 37(1), pp. 21-30. Lancaster, UK: Springer 10.1007/s10545-013-9624-0
Journal of inherited metabolic disease, 37(1), 21-30. Springer Netherlands
Journal of Inherited Metabolic Disease, vol. 37, no. 1, pp. 21-30
Journal of Inherited Metabolic Disease
Journal of inherited metabolic disease
Europe PubMed Central
Rüegger, Corinne M; Lindner, Martin; Ballhausen, Diana; Baumgartner, Matthias R; Beblo, Skadi; Das, Anibh; Gautschi, Matthias; Glahn, Esther M; Grünert, Sarah C; Hennermann, Julia; Hochuli, Michel; Huemer, Martina; Karall, Daniela; Kölker, Stefan; Lachmann, Robin H; Lotz-Havla, Amelie; Möslinger, Dorothea; Nuoffer, Jean-Marc; Plecko, Barbara; Rutsch, Frank; ... (2013). Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. Journal of inherited metabolic disease, 37(1), pp. 21-30. Lancaster, UK: Springer 10.1007/s10545-013-9624-0
Journal of inherited metabolic disease, 37(1), 21-30. Springer Netherlands
Journal of Inherited Metabolic Disease, vol. 37, no. 1, pp. 21-30
Journal of Inherited Metabolic Disease
Journal of inherited metabolic disease
Urea cycle disorders (UCDs) are inherited disorders of ammonia detoxification often regarded as mainly of relevance to pediatricians. Based on an increasing number of case studies it has become obvious that a significant number of UCD patients are af
Autor:
Nikolas, Boy, Jana, Heringer, Gisela, Haege, Esther M, Glahn, Georg F, Hoffmann, Sven F, Garbade, Stefan, Kölker, Peter, Burgard
Publikováno v:
Orphanet Journal of Rare Diseases
Background Glutaric aciduria type I (GA-I) is an inherited metabolic disease due to deficiency of glutaryl-CoA dehydrogenase (GCDH). Cognitive functions are generally thought to be spared, but have not yet been studied in detail. Methods Thirty patie
Autor:
Peter Burgard, Esther M. Glahn, Matthias R. Baumgartner, Florian Gleich, Stefan Kölker, Jiri Zeman, Angels García-Cazorla, Chris Mühlhausen, Gisela Haege, Dagmar Jamiolkowski, Ivo Barić
Publikováno v:
Journal of inherited metabolic disease. 39(2)
Organic acidurias (OADs) and urea cycle disorders (UCDs) are inborn metabolic disorders with a risk for acute and chronic metabolic decompensation resulting in impairments of the central nervous system and other organ systems. So far, there is no sys
Autor:
Peter Burgard, Georg F. Hoffmann, Gisela Haege, Martin Lindner, Gwendolyn Gramer, Esther M. Glahn
Publikováno v:
Journal of inherited metabolic disease. 37(2)
Newborn screening for inborn errors of metabolism is regarded as highly successful by health professionals. Little is known about parents' perspectives on child development and social impact on families.Parents of 187 patients with metabolic disorder