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Nephropathic cystinosis.
Pediatrics in review, 1997 Nephropathic cystinosis is one of the only lysosomal storage diseases for which there is an effective therapy against the basic, pathologic process-cystine accumulation. Early diagnosis and therapy are critical to optimize the prognosis.openaire +1 more sourceUnrecognized juvenile nephropathic cystinosis
Kidney International, 2018 Jan, Schiefer, Martin, Zenker, Hermann-Josef, Gröne, Christos, Chatzikyrkou, Peter Rene, Mertens, Vassilios, Liakopoulos +5 moreopenaire +2 more sourcesNephropathic Cystinosis in Adults
2016 Cystinosis is an autosomal recessive lysosomal storage disorder caused by a defect in the carrier-mediated system that normally transports cystine out of lysosomes. As a consequence, tissues accumulate variable amounts of the disulphide amino acid cystine. Three overlapping clinical phenotypes are recognized, varying in severity and age of onset.openaire +1 more sourceCystinosis, Nephropathic
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 sourceNephropathic Cystinosis
2009 Stephan J. Froehlich, Carlo A. Lackerbauer, Guenter Rudolph, Jan Rémi, Soheyl Noachtar, Werner J. Heppt, Annette Cryer, Hans-Peter Zenner, Hans Helmut Niller, Fritz Schwarzmann, Hans Wolf, Thomas Frieling, Alexander K. C. Leung, Carina Wallgren-Pettersson, Hans H. Goebel, François Jouret, Olivier Devuyst, Massimo Attanasio, Friedhelm Hildebrandt, Vivekanand Jha, Kirpal S. Chugh, Anthony M. Marinaki, H. Anne Simmonds, Xiaoyan Zhou, Edward D. Frohlich, Vladimir Tesar, Hannu Jalanko, Vinzenz Oji, Heiko Traupe, Adrian Danek, Corrado Angelini, Dieter Kaufmann, Dieter Kaufmann, Michael Weller, Johannes Kornhuber, Angela Vincent, John Newsom-Davis, Sara Mole, Ruth Williams, Jonathan Baets, C. Oliver Hanemann, Peter Jonghe, Ian Holt, Thomas Klopstock, Massimo Zeviani, Klaus Ley, Emily Smith, Masaaki Shiohara, Alexander K. C. Leung, William Lane M. Robson, Eirini I. Brokalaki, Stephan Grabbe, Carmen Loquai, Donatus Nohr, Donatus Nohr, Jürgen Gallinat, Edward H. Schuchman, Robert J. Desnick, Christina Zeitz, Shuki Mizutani, Jordan S. Orange, Jeffrey P. Weiss, Jerry G. Blaivas, William Lane M. Robson, Alexander K. C. Leung, Lucia K. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Peter E. H. Schwarz, Jiang Li, Derek LeRoith, Shigeo Kure, Keiya Tada, Jochen Utikal, Alexei Gratchev, Sergij Goerdt, Marco Senzolo, Elena Piovesana, Lajos Okolicsanyi, Andrew K. Burroughs, Erik A. Sistermans, Jutta Engel, M. Dominik Fischer, Wolfgang Berger, Maria Grazia Tozzi, Vanna Micheli, Alexander K. C. Leung, William Lane M. Robson +87 moreopenaire +1 more source
