Results 141 to 150 of about 7,542 (179)
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Mouse models for congenital disorders of glycosylation
Journal of Inherited Metabolic Disease, 2011 AbstractGlycoprotein biosynthesis describes the process of co‐ and posttranslational attachment of sugar chains to proteins, a process that has been found in nearly all known organisms. Human deficiencies evoked by mutations in the glycosylation pathway of glycoproteins lead to congenital disorders of glycosylation (CDG), a rapidly expanding group of ...Christian, Thiel, Christian, Körneropenaire +2 more sources[Congenital disorders of glycosylation].
Annales pharmaceutiques francaises, 2003 Congenital disorders of glycosylation (CDG) is a fast growing group of autosomal recessive inherited diseases caused by defects in glycosylation. The biosynthesis of the glycans is a pathways which occurs in the endoplasmic reticulum and Golgi complex thanks to highly specific enzymes: glycosidases and glycosyltransferases.G, Durand, Th, Dupré, S, Vuillaumier-Barrot, N, Seta +3 moreopenaire +1 more sourceNeurological Consequences of Congenital Disorders of Glycosylation
2022 The chapter is devoted to neurological aspects of congenital disorders of glycosylation (CDG). At the beginning, the various types of CDG with neurological presentation of symptoms are summarized. Then, the occurrence of various neurological constellation of abnormalities (for example: epilepsy, brain anomalies on neuroimaging, ataxia, stroke-like ...openaire +2 more sourcesCongenital Disorders of Glycosylation and the Pediatric Liver
Seminars in Liver Disease, 2001 Congenital disorders of glycosylation (CDG) are caused by defects in protein N-glycosylation. These inherited disorders impact multiple organ systems, including the liver, its glycoprotein products, and the gastrointestinal system. Many patients have hypotonia, psychomotor retardation, developmental delay, and failure to thrive.openaire +2 more sourcesCongenital Disorders of Glycosylation
2009 Nils Peters, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann, H. Peter Rodemann, Anca Sindrilaru, Cord Sunderkötter, Hiroshi Watanabe, Dan M. Roden, Giora Feuerstein, Robert Ruffolo, Ralph Knöll, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Mangala A. Nadkarni, F. Elizabeth Martin, Nicholas A. Jacques, Neil Hunter, Markus Böhm, Thomas A. Luger, Tilman Grune, Nicola Longo, Cristina Amat Di San Filippo, Elisabeth L. Schwarz, Marzia Pasquali, Elardus Erasmus, Lodewyk J. Mienie, Marcus Deschauer, Stephan Zierz, Du Toit Loots, Lee A. Denson, Helen C. Su, Michael J. Lenardo, Heather E. McDermid, Graeme Eisenhofer, Oscar De La Calle-Martin, Natalia Casamitjana, Cristina Woellner, Bodo Grimbacher, Detlef Schuppan, Walter Lisch, Berthold Seitz, Andreas Janecke, Tommie V. McCarthy, Carina Wallgren-Pettersson, Joost Haan, Michael T. Wunderlich, Nicole Revencu, Miikka Vikkula, Akira Honda, Seema R. Lalani, John W. Belmont, Julian Ilcheff Borissoff, Hugo Ten Cate, Takatoshi Kasai, Daniel Markovich, Michael Trauner, Carlo Selmi, M. Eric Gershwin, Michael Trauner, Michael Trauner, Malcolm A. Lyons, Kirk J. Maurer, Martin C. Carey, Lee A. Denson, Frank Lammert, Tilman Sauerbruch, Lee A. Denson, Peter L. M. Jansen, Peter L. M. Jansen, Peter L. M. Jansen, Holger Sudhoff, Stephan Vom Dahl, Detlev Ameis, Muhammad Faiyaz-Ul-Haque, Syed Hassan Ejaz Zaidi, Caroline Silve, Piero Pavone, Rosario Rich Trifiletti, Friedrich Asmus, Petra Weckerle, Gesa Schwanitz, Barbara Busert, Tanya Thiagarajah, Walter Muir, Ben Pickard, Anthony J. Cleare, Hubert Scharnagl, Winfried März, Ralf Kubitz, Dieter Häussinger, Norbert Schwenzer, Alexander K. C. Leung, William Lane M. Robson, Andrew L. Wong, Yener Güzelcan, Francesco Trotta, Andrea Lo Monaco, Alexander K. C. Leung, Reginald S. Sauve, Todd D. Rozen, Gloria L. David, Darryl C. Zeldin, P. Syamasundar Rao, Anne M. Molloy, John M. Scott, Göksel Somay, Sultan Ayoub Meo, Sultan Ayoub Meo, Joshua Fierer, Mark Berneburg, Thomas Schwarz, Jürgen Schölmerich, Anne Katrin Lampe, Kate Bushby, William J. Speake, John Simpson, Hope E. Uronis, Gerard C. Blobe, Diego Franco, Amelia Aránega, Eggert Stockfleth, Ingo Nindl, Christian Hamel, Felix G. Riepe, Erich C. Strauss, Vinzenz Oji, Heiko Traupe, Thomas Frieling, Andrea Cavani, Giampiero Girolomoni, Randolf Brehler, Ortrud K. Steinlein, Janet Y. Uriu-Adams, Janet Y. Uriu-Adams, Jean-Charles Deybach, Hervé Puy, Michael L. S. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Alexander A. C. Leung, Patrick T. S. Ma, Alexander K. C. Leung, Walter Lisch, Berthold Seitz, Andreas Janecke, Walter Lisch, Berthold Seitz, Andreas Janecke, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Berthold Seitz, Andreas Janecke, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Berthold Seitz, Andreas Janecke, Walter Lisch, Berthold Seitz, Andreas Janecke, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch +199 moreopenaire +1 more source
