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Chapter 9 GM2 gangliosidoses
2007 LOGM(2)G results from the defective activity of the lyosomal enzyme beta-hexosaminidase A. Continued accumulation of undegraded substrate results in pathology in the central nervous system. The disease is progressive and disease dynamics may vary throughout life.openaire +2 more sourcesAB-Variant of GM2-Gangliosidoses
2009 Hubert Scharnagl, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, Susanna Mac, Dan Donoghue, Susanne Kohl, Gema Ariceta, Daniel Batlle, Gema Ariceta, Daniel Batlle, Daniel Batlle, Ehteshamudin Syed, Jacob I. Sznajder, Christos C. Zouboulis, Markus Pfister, Deepak Kamat, Alexander K. C. Leung, Thomas Schwarz, Jorge Frank, Sven Schinner, Stefan R. Bornstein, Meinhard Schiller, Dorothée Nashan, Cord Sunderkötter, Thomas Schwarz, Mark Berneburg, Nigel G. Laing, Alan H. Beggs, Hans H. Goebel, Du Toit Loots, Amrik Sahota, Jay A. Tischfield, H. Anne Simmonds, Wolfgang Dietmaier, Arndt Hartmann, Michael S. Hershfield, Georges Berghe, Jaak Jaeken, Manish Suneja, Christie P. Thomas, Manish Suneja, Christie P. Thomas, Holger S. Willenberg, Stefan R. Bornstein, Holger S. Willenberg, James M. Powers, James M. Powers, Herbert L. Bonkovsky, Manish Thapar, Sishir Mathur, Lee A. Denson, André B. P. Kuilenburg, Albert H. Gennip, Wim Hul, Filip Vanhoenacker, Markus Böhm, Thomas A. Luger, Karel Frasch, Markus Jäger, Nilufar Mohebbi, Carsten A. Wagner, Malin Lindstedt, Carl Borrebaeck, Michala Bezdekova, Svetlana Brychtova, Zdenek Kolar, Tomas Brychta, Renata Kucerova, Martina Bienova, Tobias W. Fischer, Ralf Paus, Birgit Haack, Stefan Kins, Konrad Beyreuther, André B. P. Kuilenburg, Albert H. Gennip, Sehsuvar Ertürk, Sim Kutlay, Michael Emberger, Helmut Hintner, Thomas Hawranek, Ruth Danzeisen, Albert C. Ludolph, Michelle M. Estrella, Mohamed G. Atta, Kumarasamy Thangaraj, Singh Rajender, John-John B. Schnog, Victor E. A. Gerdes, Karina Yazdanbakhsh, Andromachi Scaradavou, Norbert Gattermann, Michael L. H. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Alessandra Baumer, Wolfgang Schillinger, Gerd Hasenfuss, Matthias Wenning, Murat Bas, Georg Kojda, Randolf Brehler, Engin Sezer, Atilla Şenaylı, Michael Stürzl, Peter Klein, Christian Zietz, Steven Mumm, Guido Adler, Kirsty Kiezebrink, Alan P. Knutsen, Cord Sunderkötter, Henrik Larsson, Essi Viding, Hugo Ten Cate, James K. Stoller, David A. Lomas, Daniela Eser, Rainer Rupprecht, Matthias Siepe, Friedhelm Beyersdorf, Michael L. H. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Volker Liebe, Jens J. Kaden, Raffi Bekeredjian, Norbert Frey, Pavel Fencl, Lucia K. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Omar A. Ibrahimi, Moosa Mohammadi, Michael M. Hoffmann, Winfried März, Sebastian Wesselborg, Björn Stork, Sylvia Stöckler-Ipsiroglu, Avi Fischer, Davendra Mehta, Patrick T. S. Ma, Michael L. H. Ma, Alexander K. C. Leung, Jens Seiler, Martin Rotter, Alexander Leaf, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Christopher K. Zarins, Roberto Manfredi, Jeno Sebes, Yun Zhao, Darryl C. Zeldin, Pere Ginès, Mónica Guevara, Zhirong Yao, Colin A. Johnson, Damian C. Melles∗, S. Marie, Mark G. Buckley, Gordon Dent, Stephen T. Holgate, Alfried Kohlschütter, Thomas Klockgether, Thomas Klockgether, Thomas Klockgether, Eleanor M. Summerhill, F. Dennis McCool, Rita L. McGill, Mayumi Endo, Rodolfo Paoletti, Andrea Cignarella, Randolf Brehler, M. Cristina Digilio, Bruno Marino, Anna Sarkozy, Bruno Dallapiccola, Kurt C. Roberts-Thomson, Jonathan M. Kalman, Michael L. H. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Andy Wessels, Tim McQuinn, Siobhan D. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Marc Zimmermann, Haran Burri, Robert Dalla Pozza, Klaus-Peter Lesch, Thomas Bourgeron, Nada Kanaan +199 moreopenaire +1 more sourceB-Variant of the GM2-Gangliosidoses
2009 Alexander K. C. Leung, Marcus Schmitt, Christie P. Thomas, Cord Sunderkötter, Meinhard Schiller, Thomas Schwarz, Mark Berneburg, Alfried Kohlschütter, Lorenzo Cerroni, Haner Direskeneli, Kenneth Calamia, Gloria L. David, Darryl C. Zeldin, Bärbel Schütte, Lee A. Denson, Andreas Erhardt, Ralf Kubitz, Dieter Häussinger, Wendy M. Sealey, Donald M. Mock, Barry Wolf, Johannes Schumacher, Peter Propping, Dieter Metze, Alexander K. C. Leung, Andrew L. Wong, Mark Berneburg, Thomas Schwarz, Markus Hengstschläger, Whitney A. High, Kenneth R. Shroyer, M. Elizabeth McCready, Dennis E. Bulman, Ali R. Afzal, David B. Everman, Claude Stoll, Sukran Darcan, Yu Ru Kou, You Shuei Lin, Yoichi Suzuki, Keiya Tada, Alexander K. C. Leung, Susan Kupka, Wolfgang Dietmaier, Arndt Hartmann, Raoul C. M. Hennekam, John A. Belperio, Michael P. Keane, M. Iain Smith, Robert M. Strieter, Nestor A. Molfino, Francesca Sciandra, Tom Rossenbacker, Silvia G. Priori, Marco Senzolo, Christos Triantos, Dimitrios Samonakis, Evangelos Cholongitas, Andrew K. Burroughs, Marco Mura, Markus Braun-Falco, Silke Hofmann, Leena Bruckner-Tuderman +62 moreopenaire +1 more source0-Variant of the GM2-Gangliosidoses
2009 Wendy Balemans, Wim Van Hul, Marian Valko, Jan Moncol, Lee A. Denson, Maria Mela, Ulrich Thalheimer, Dimitrios Samonakis, Andrew K. Burroughs, Alexander K. C. Leung, Reginald S. Sauve, William Lane M. Robson, Stefan R. Bornstein, Marina Aunapuu, Andres Arend, Mike Recher, Karl S. Lang, Arthur Melms, Mike Recher, Karl S. Lang, Mike Recher, Karl S. Lang, Cord Sunderkötter, Anca Sindrilaru, Maria Teresa Divizia, Margherita Lerone, Roberto Ravazzolo, Vimla S. Aggarwal, Jelena S. Arnold, Anna Blonska*, Bernice E. Morrow, Ralf Kubitz, Takashi Yamaki, Alexander K. C. Leung, Kim A. Connelly, Richard E. Gilbert, Lucia K. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Narain Moorjani, Peter H. Sugden, Christophe Depre, Joseph B. Selvanayagam, Annika Burow, Etienne Delacrétaz, Zhuang Chen, Weinian Shou, Eggert Stockfleth, Ingo Nindl, Thomas Brandt, Michael Strupp, Diethilde Theil, Brage Storstein Andresen, Amei Ludwig, Hartmut Hengel, Johannes G. Bode, Andreas Erhardt, Guido Oppido, Carlo Pace Napoleone, Gaetano Gargiulo, Hans K. Biesalski, Hans K. Biesalski, Hans-Jürgen Gdynia, Albert C. Ludolph, Roland Bitsch, Naidu K. Akhilender, Naidu K. Akhilender, Armin Zittermann, Armin Zittermann, Angelo Azzi, Yesim Negis, Angelo Azzi, Yesim Negis, Arie Markel, Nir Kfir, Arie Markel, Nir Kfir, Johannes Bayer, Stefan Beissert, Janice Y. Chou, Brian C. Mansfield, Arndt Hartmann, Wolfgang Dietmaier, Hugo Ten Cate +83 moreopenaire +1 more source
