Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Gesche Düker"'
Autor:
Dominik J. Kaczmarek, Dominik J. Heling, Christian P. Strassburg, David Katzer, Gesche Düker, Joanna Strohm, Andreas Müller, Andreas Heydweiller, Tobias J. Weismüller
Publikováno v:
BMC Gastroenterology, Vol 22, Iss 1, Pp 1-9 (2022)
Abstract Background Endoscopic vacuum therapy (EVT) has become a standard treatment method for esophageal perforations in adults. However, experience with EVT in infants is scarce. In this retrospective case series, we report on four very young infan
Externí odkaz:
https://doaj.org/article/f8135a746a4345a395773e326b34b97c
Autor:
Denise Aldrian, Georg F. Vogel, Teresa K. Frey, Hasret Ayyıldız Civan, Aysel Ünlüsoy Aksu, Yaron Avitzur, Esther Ramos Boluda, Murat Çakır, Arzu Meltem Demir, Caroline Deppisch, Hans-Christoph Duba, Gesche Düker, Patrick Gerner, Jozef Hertecant, Jarmila Hornová, Simone Kathemann, Jutta Koeglmeier, Arsinoi Koutroumpa, Roland Lanzersdorfer, Raffi Lev-Tzion, Rosa Lima, Sahar Mansour, Manfred Meissl, Jan Melek, Mohamad Miqdady, Jorge Hernan Montoya, Carsten Posovszky, Yelena Rachman, Tania Siahanidou, Merit Tabbers, Holm H. Uhlig, Sevim Ünal, Stefan Wirth, Frank M. Ruemmele, Michael W. Hess, Lukas A. Huber, Thomas Müller, Ekkehard Sturm, Andreas R. Janecke
Publikováno v:
Journal of Clinical Medicine, Vol 10, Iss 3, p 481 (2021)
Myosin Vb (MYO5B) is a motor protein that facilitates protein trafficking and recycling in polarized cells by RAB11- and RAB8-dependent mechanisms. Biallelic MYO5B mutations are identified in the majority of patients with microvillus inclusion diseas
Externí odkaz:
https://doaj.org/article/baf5d513807b44a0b8acae0e42206dc4
Autor:
Dominik J, Kaczmarek, Dominik J, Heling, Christian P, Strassburg, David, Katzer, Gesche, Düker, Joanna, Strohm, Andreas, Müller, Andreas, Heydweiller, Tobias J, Weismüller
Publikováno v:
BMC gastroenterology. 22(1)
Endoscopic vacuum therapy (EVT) has become a standard treatment method for esophageal perforations in adults. However, experience with EVT in infants is scarce. In this retrospective case series, we report on four very young infants who were successf
Autor:
Lars Beedgen, Bianca Dimitrov, Gesche Düker, Matthias Zielonka, Michael J. Lentze, Catherine Barrey, Kai‐Christian Thiemann, Nathalie Seta, Rainer Ganschow, Stuart E.H. Moore, Verena Peters, Anna‐Marlen Hutter, Jonas Denecke, Irmgard Sinning, Georg F. Hoffmann, Christian Thiel, Sandrine Vuillaumier-Barrot, Thierry Dupré, Maximilian Breuer, Nastassja Himmelreich, Wolfgang Kölfen, Virginia Geiger, Andreas Hüllen, Andreas Ziegler
Publikováno v:
Human mutation. 40(7)
ALG3-CDG is one of the very rare types of congenital disorder of glycosylation (CDG) caused by variants in the ER-mannosyltransferase ALG3. Here, we summarize the clinical, biochemical, and genetic data of four new ALG3-CDG patients, who were identif
Autor:
Tobias, Schwerd, Sumeet, Pandey, Huei-Ting, Yang, Katrin, Bagola, Elisabeth, Jameson, Jonathan, Jung, Robin H, Lachmann, Neil, Shah, Smita Y, Patel, Claire, Booth, Heiko, Runz, Gesche, Düker, Ruth, Bettels, Marianne, Rohrbach, Subra, Kugathasan, Helen, Chapel, Satish, Keshav, Abdul, Elkadri, Nick, Platt, Alexio M, Muise, Sibylle, Koletzko, Ramnik J, Xavier, Thorsten, Marquardt, Fiona, Powrie, James E, Wraith, Mads, Gyrd-Hansen, Frances M, Platt, Holm H, Uhlig
Publikováno v:
Gut
Objective Patients with Niemann–Pick disease type C1 (NPC1), a lysosomal lipid storage disorder that causes neurodegeneration and liver damage, can present with IBD, but neither the significance nor the functional mechanism of this association is c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::3faa84dafc9584ec2e683c7cc1b9c237
https://www.zora.uzh.ch/id/eprint/132713/
https://www.zora.uzh.ch/id/eprint/132713/
Autor:
Joachim Schmitt, Ingo Franke, Michael J. Lentze, Gesche Düker, Stefan Buderus, Birgit Stoffel-Wagner, Michael Schlieber, Arend Bökenkamp
Publikováno v:
Clinical Biochemistry. 40:969-975
Objectives: To determine the pediatric reference interval for serum β-trace protein (β-TP) and to compare β-TP with established LMW markers of GFR, i.e., cystatin C (CysC) and β 2 -microglobulin (β 2 -M). Design and methods: All three LMW marker
Autor:
Jan Maarten Cobben, Nienke E. Verbeek, Markus M. Lerch, Fowzan S. Alkuraya, Manuel Oltra Benavent, Celina Guzman, Nima Rezaei, Abdullah Alrajoudi, Özgür Kirbiyik, Martin Zenker, Charu Deshpande, Carlos A. Venegas-Vega, Prajnya Ranganath, Fouad Ali, Marie-Claude Addor, Erick Richmond, Eva-Lena Stattin, Lynette A. Gillis, Débora Romeo Bertola, David B. Everman, Klaus-Michael Keller, Maja Sukalo, Gesche Düker, Clara D.M. van Karnebeek, Heiko Witt, Zhifeng Liu, Julia Mayerle, Jiad N. Mcheik, Crésio Alves, Bita Bozorgmehr, Stephanie Spranger, Amy Shealy, Ankur Singh, Koumudi Godbole, Ariane Fiedler, Jan Liebelt, Gonul Ogur, Carsten Bergmann
Publikováno v:
HUMAN MUTATION
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Human mutation, 35(5), 521-531. Wiley-Liss Inc.
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Human mutation, 35(5), 521-531. Wiley-Liss Inc.
Bertola, Debora/0000-0002-4701-6777; Rezaei, Nima/0000-0002-3836-1827; Lerch, Markus M./0000-0002-9643-8263; Richmond, Erick/0000-0001-9946-3686; Mayerle, Julia/0000-0002-3666-6459 WOS: 000334658800003 PubMed: 24599544 Johanson-Blizzard syndrome (JBS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67a0afa1a5856c41c1115b1d93d74dc5
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=8918
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=8918
Autor:
Bernd Hoppe, Gisela Offner, Stefan Fründ, Günter Klaus, Anne-Kathrin Pieper, Gesche Düker, Dieter Haffner, Amrey Stübinger, Ulrike John, Katalin Dittrich, Uwe Querfeld, Klaus-Eugen Bonzel
Publikováno v:
American journal of kidney diseases : the official journal of the National Kidney Foundation. 47(4)
A multicenter, randomized, open-label, crossover study was performed to compare the efficacy and safety of sevelamer, a calcium-free phosphate binder, with calcium acetate in pediatric patients with chronic kidney disease (CKD).Children (age, 0.9 to