Results 181 to 190 of about 1,953 (203)

The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives

Nature Reviews Nephrology, 2016
Stephanie Cherqui
exaly  

Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults

Kidney International, 2012
Chris Ottolenghi, Pierre Cochat
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

Impairment of chaperone‐mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis

EMBO Molecular Medicine, 2015
Gennaro Napolitano, Jing He, Celine J Rocca   +2 more
exaly  

Hematopoietic Stem Cell Gene Therapy for the Multisystemic Lysosomal Storage Disorder Cystinosis

Molecular Therapy, 2013
Celine J Rocca, Donald B Kohn, Stephanie Cherqui   +2 more
exaly  

Cystinosin, the protein defective in cystinosis, is a H+-driven lysosomal cystine transporter

EMBO Journal, 2001
Vasiliki Kalatzis, Bruno Gasnier
exaly  

Cystinosis, Nephropathic

2012
openaire   +1 more source

Cysteamine therapy: a treatment for cystinosis, not a cure

Kidney International, 2012
Stephanie Cherqui
exaly  

Bone and Mineral Metabolism in Children with Nephropathic Cystinosis Compared with other CKD Entities

Journal of Clinical Endocrinology and Metabolism, 2020
Maren Leifheit-Nestler, Katharina Hohenfellner, Jun Oh   +2 more
exaly  

Management of bone disease in cystinosis: Statement from an international conference

Journal of Inherited Metabolic Disease, 2019
Katharina Hohenfellner, Frank Rauch, Justine Bacchetta   +2 more
exaly