Results 171 to 180 of about 2,800 (183)

Ophthalmic Manifestations and Histopathology of Infantile Nephropathic Cystinosis: Report of a Case and Review of the Literature

Survey of Ophthalmology, 2007
Chi-Chao Chan, William A Gahl, Pamela C Sieving   +2 more
exaly  

Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis† ‡

Human Mutation, 2002
Andrea Superti-Furga, Beat Steinmann, Erik Harms   +2 more
exaly  

Cystinosis, Nephropathic

2012
openaire   +1 more source

Nephropathic cystinosis: late complications of a multisystemic disease

Pediatric Nephrology, 2008
William A Gahl, Galina Nesterova
exaly  

Clinical trial readiness study of distal myopathy and dysphagia in nephropathic cystinosis

Muscle and Nerve, 2020
Florian S Eichler, Maya Doyle, Natalie R Grant   +2 more
exaly  

Molecular Characterization of CTNS Deletions in Nephropathic Cystinosis: Development of a PCR-Based Detection Assay

American Journal of Human Genetics, 1999
Cathryn Lewis, Corinne Antignac, Stephanie Cherqui   +2 more
exaly  

Infantile Nephropathic Cystinosis

2009
Stanley M. Gartler, R. Scott Hansen, Vinzenz Oji, Heiko Traupe, Julia Horn, Bodo Grimbacher, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Kar Neng Lai, Silke Hofmann, Leena Bruckner-Tuderman, Peter E. H. Schwarz, Jiang Li, Stefan Bröer, Wallace F. Marshall, Elana Lavine, Chaim M. Roifman, Makoto Miyara, Shimon Sakaguchi, Carla Rautenberg, Bodo Grimbacher, Are Martin Holm, Marcus D. Säemann, Cord Sunderkötter, Eiji Itoi, Ursula Knirsch, Georg Gosztonyi, Vinzenz Oji, Heiko Traupe, Valéria Lamounier-Zepter, Karen Buckingham, Larry Chamley, Alberto Ferlin, Carlo Foresta, Rudi Beyaert, Geert Loo, Egbert Mundt, Elizabeth M. Keithley, Jeffrey P. Harris, Cecilia Camacho-Hübner, Katie A. Woods, Adrian J. L. Clark, Martin O. Savage, Cecilia Camacho-Hübner, Katie Woods, Adrian Clark, Martin O. Savage, Jean-Marc Guettier, Phillip Gorden, Sumeet K. Sharma, P. Syamasundar Rao, Takeshi Uehara, Takayuki Honda, Bernd Hohenstein, Christian P. M. Hugo, Sema Uguralp, Ralf Kubitz, Dieter Häussinger, Thomas Frieling, Marcus Schmitt, Walid Ahmar, Richard W. Harper, Alexander K. C. Leung, Andrew L. Wong, Alessandra Baumer, Albert Schinzel, Orsetta Zuffardi, Roberto Ciccone, Roberto Giorda, Elio Roti, Klaus Schümann, Josef Köhrle, Klaus Schümann, Günter Weiss, Klaus Schümann, Günter Weiss, Matthias Wenning, Christy T. Oswalt, Christian A. Koch, Martin Schwarz, Freimut Schliess, Alexander K. C. Leung, Du Toit Loots   +83 more
openaire   +1 more source

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Frontiers in Pediatrics, 2018
Lutz T. Weber
exaly  

Cysteamine treatment of nephropathic cystinosis

2010
openaire   +2 more sources

Cysteamine for nephropathic cystinosis

2004
MD Sinha, AK Sinha, PS Shah, SPA Rigden
openaire   +1 more source