Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum von Sukalo, Maja, Fiedler, Ariane, Guzmán, Celina, Spranger, Stephanie, Addor, Marie-Claude, Mcheik, Jiad N., Oltra Benavent, Manuel, Cobben, Jan M., Gillis, Lynette A., Shealy, Amy G., Deshpande, Charu, Bozorgmehr, Bita, Everman, David B., Stattin, Eva-Lena, Liebelt, Jan, Keller, Klaus-Michael, Bertola, Débora Romeo, van Karnebeek, Clara D.M., Bergmann, Carsten, Liu, Zhifeng, Düker, Gesche, Rezaei, Nima, Alkuraya, Fowzan S., Oğur, Gönül, Alrajoudi, Abdullah, Venegas-Vega, Carlos A., Verbeek, Nienke E., Richmond, Erick J., Kirbiyik, Özgür, Ranganath, Prajnya, Singh, Ankur, Godbole, Koumudi, Ali, Fouad A. M., Alves, Crésio, Mayerle, Julia, Lerch, Markus M., Witt, Heiko, Zenker, Martin

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Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann–Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease von Schwerd, Tobias, Pandey, Sumeet, Yang, Huei-Ting, Bagola, Katrin, Jameson, Elisabeth, Jung, Jonathan, Lachmann, Robin H, Shah, Neil, Patel, Smita Y, Booth, Claire, Runz, Heiko, Düker, Gesche, Bettels, Ruth, Rohrbach, Marianne, Kugathasan, Subra, Chapel, Helen, Keshav, Satish, Elkadri, Abdul, Platt, Nick, Muise, Alexio M, Koletzko, Sibylle, Xavier, Ramnik J, Marquardt, Thorsten, Powrie, Fiona, Wraith, James E, Gyrd-Hansen, Mads, Platt, Frances M, Uhlig, Holm H

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Management of esophageal perforations in infants by endoscopic vacuum therapy: a single center case series von Kaczmarek, Dominik J, Heling, Dominik J, Strassburg, Christian P, Katzer, David, Düker, Gesche, Strohm, Joanna, Müller, Andreas, Heydweiller, Andreas, Weismüller, Tobias J

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Childhood Onset Inflammatory Bowel Disease: Predictors of Delayed Diagnosis from the CEDATA German-Language Pediatric Inflammatory Bowel Disease Registry von Timmer, Antje, MD, MSc, PhD, Behrens, Rolf, MD, PhD, Buderus, Stephan, MD, Findeisen, Annette, MD, Hauer, Almuthe, MD, PhD, Keller, Klaus-Michael, MD, PhD, Kliemann, Guido, MD, Lang, Thomas, MD, Lohr, Wolfgang, CDM, Rzehak, Peter, PhD, Koletzko, Sibylle, MD, PhD

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Novel variants and clinical symptoms in four new ALG3‐CDG patients, review of the literature, and identification of AAGRP‐ALG3 as a novel ALG3 variant with alanine and glycine‐rich... von Himmelreich, Nastassja, Dimitrov, Bianca, Geiger, Virginia, Zielonka, Matthias, Hutter, Anna‐Marlen, Beedgen, Lars, Hüllen, Andreas, Breuer, Maximilian, Peters, Verena, Thiemann, Kai‐Christian, Hoffmann, Georg F., Sinning, Irmgard, Dupré, Thierry, Vuillaumier‐Barrot, Sandrine, Barrey, Catherine, Denecke, Jonas, Kölfen, Wolfgang, Düker, Gesche, Ganschow, Rainer, Lentze, Michael J., Moore, Stuart, Seta, Nathalie, Ziegler, Andreas, Thiel, Christian

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Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations von Aldrian, Denise, Vogel, Georg F., Frey, Teresa K., Ayyildiz Civan, Hasret, Aksu, Aysel Unlusoy, Avitzur, Yaron, Ramos Boluda, Esther, Cakir, Murat, Demir, Arzu Meltem, Deppisch, Caroline, Duba, Hans-Christoph, Dueker, Gesche, Gerner, Patrick, Hertecant, Jozef, Hornova, Jarmila, Kathemann, Simone, Koeglmeier, Jutta, Koutroumpa, Arsinoi, Lanzersdorfer, Roland, Lev-Tzion, Raffi, Lima, Rosa, Mansour, Sahar, Meissl, Manfred, Melek, Jan, Miqdady, Mohamad, Montoya, Jorge Hernan, Posovszky, Carsten, Rachman, Yelena, Siahanidou, Tania, Tabbers, Merit, Uhlig, Holm H., Unal, Sevim, Wirth, Stefan, Ruemmele, Frank M., Hess, Michael W., Huber, Lukas A., Mueller, Thomas, Sturm, Ekkehard, Janecke, Andreas R.

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Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease von Schwerd, Tobias, Pandey, Sumeet, Yang, Huei-Ting, Bagola, Katrin, Jameson, Elisabeth, Jung, Jonathan, Lachmann, Robin H, Shah, Neil, Patel, Smita Y, Booth, Claire, Runz, Heiko, Düker, Gesche, Bettels, Ruth, Rohrbach, Marianne, Kugathasan, Subra, Chapel, Helen, Keshav, Satish, Elkadri, Abdul, Platt, Nick, Muise, Alexio M, Koletzko, Sibylle, Xavier, Ramnik J, Marquardt, Thorsten, Powrie, Fiona, Wraith, James E, Gyrd-Hansen, Mads, Platt, Frances M, Uhlig, Holm H

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A Randomized Crossover Trial Comparing Sevelamer With Calcium Acetate in Children With CKD von Pieper, Anne-Kathrin, Haffner, Dieter, Hoppe, Bernd, Dittrich, Katalin, Offner, Gisela, Bonzel, Klaus-Eugen, John, Ulrike, Fründ, Stefan, Klaus, Günter, Stübinger, Amrey, Düker, Gesche, Querfeld, Uwe

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β-Trace protein — A marker of kidney function in children: “Original research communication–clinical investigation” von Bökenkamp, Arend, Franke, Ingo, Schlieber, Michael, Düker, Gesche, Schmitt, Joachim, Buderus, Stefan, Lentze, Michael J., Stoffel-Wagner, Birgit

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Anti-TNF therapy for inflammatory bowel disease in patients with neurodegenerative Niemann-Pick disease Type C von Williams, Isabelle, Sumeet Panday, Haller, Wolfram, Huynh, Hien Q., Chan, Alicia, Duker, Gesche, Bettels, Ruth, Peyrin-Biroulet, Laurent, Chinenye R Dike, DeGeeter, Catherine, Smith, David, Eisa, Nada Al, Platt, Nick, Marquardt, Thorsten, Schwerd, Tobias, Platt, Frances M, Uhlig, Holm H

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Inflammatory bowel disease in pediatric patients: Characteristics of newly diagnosed patients from the CEDATA-GPGE Registry von Buderus, Stephan, Scholz, Dietmar, Behrens, Rolf, Classen, Martin, De Laffolie, Jan, Keller, Klaus-Michael, Zimmer, Klaus-Peter, Koletzko, Sibylle

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