Publications & Guides

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This is a collection of some of the most important cystinosis publications and education and treatment guides from around the world. It is not, however, exhaustive. You can search for abstracts and articles with specific topics of interest using PubMedGoogle ScholarNational Library of Medicine, or Springer. As of 2018, there are over 1,440 articles relating to cystinosis. Many articles are free, but others have a cost to download.

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Ophthalmology Cystinosis Forum

By Rachel J. Bishop, Katharina Hohenfellner, Hong Liang

Year: 2017

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Endocrine Complications of Cystinosis

By Elena Levtchenko

Year: 2017

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Neurocognitive Complications of Cystinosis

By Doris Trauner

Year: 2017

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Myopathy and Less Frequent Complications of Cystinosis

By Jess G. Thoene

Year: 2017

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Pulmonary Complications of Cystinosis

By Richard H. Simon

Year: 2017

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Conclusions to the Supplement, “Extra-Renal Complications of Cystinosis”

By Jess G. Thoene

Year: 2017

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Oxygen Use for Individuals with Cystinosis with Severe Muscle Weakness

By Richard H. Simon, Susan E. Thomas

Year: 2017

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KDIGO Cystinosis Conference Report

By Craig B. Langman, Bruce A. Barshop, Georges Descheˆnes, Francesco Emma , Paul Goodyer, Graham Lipkin, Julian P. Midgley, Chris Ottolenghi, Aude Servais, Neveen A. Soliman, Jess G. Thoene, Elena N. Levtchenko

Year: 2016

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Information for General Practitioners about Cystinosis

By Elena Levtchenko, Marlies Cornelissen, Mirian Janssen

Year: 2016

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Introduction to “Extra-Renal Complications of Cystinosis”

By Jess G. Thoene

Year: 2016

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Ocular Complications of Infantile Nephropathic Cystinosis

By Rachel J. Bishop

Year: 2016

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Bone Complications of Cystinosis

By Craig B. Langman

Year: 2016

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Cystinosis: a review

By Mohamed A. Elmonem; Koenraad R. Veys; Neveen A. Soliman; Maria van Dyck; Lambertus P. van den Heuvel; Elena Levtchenko

Year: 2016

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Cystinosis Transition Management Tool

By Frederick Kaskel, Rachel Bishop, Ranjan Dohil, Maya Doyle, Ewa Elenberg, Paul Goodyer, Larry Greenbaum, Christine Knerr Elena Levtchenko, Joseph Mahgerefteh, Roslyn B. Mannon, Lorrie Moreno, Galina Nesterova, Richard H. Simon, Mihir M. Thacker, Doris Trauner

Year: 2015

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Nephropathic Cystinosis: Diagnosis, Management, and Challenges in Long-term Treatment

By Larry A. Greenbaum

Year: 2015

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Nephropathic Cystinosis: an International Consensus Document

By Francesco Emma , Galina Nesterova , Craig Langman , Antoine Labbé, Stephanie Cherqui , Paul Goodyer , Mirian C. Janssen , Marcella Greco , Rezan Topaloglu , Ewa Elenberg, Ranjan Dohil, Doris Trauner, Corinne Antignac, Pierre Cochat, Frederick Kaskel, Aude Servais, Elke Wühl, Patrick Niaudet, William Van’t Hoff, William Gahl, Elena Levtchenko

Year: 2014

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The Proximal Tubule in Cystinosis: Fight or Flight?

By Robert L. Chevalier

Year: 2014

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Improving the Prognosis of Nephropathic Cystinosis

By Martine TP Besouw, Elena N Levtchenko

Year: 2014

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Quality of Life is Improved and Kidney Function Preserved in Patients with Nephropathic Cystinosis Treated for 2 Years with Delayed-Release Cysteamine Bitartrate

By Craig B. Langman, Larry A. Greenbaum, Paul Grimm, Minnie Sarwal, Patrick Niaudet, Georges Deschenes, Elisabeth A. M. Cornelissen, Denis Morin, Pierre Cochat, Ewa Elenberg, Christian Hanna, Segolene Gaillard, Mary Jo Bagger, Patrice Rioux

Year: 2014

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Cystinosis Research Network – a Patient Advocacy Group

By Jose Morales

Year: 2013

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Cystinosis: Renal Glomerular and Renal Tubular Function in Relation to Compliance with Cystine-depleting Therapy

By Galina Nesterova, Caitlyn Williams, Isa Bernardini, William A. Gahl

Year: 2014

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A Randomized Controlled Crossover Trial with Delayed-Release Cysteamine Bitartrate in Nephropathic Cystinosis: Effectiveness on White Blood Cell Cystine Levels and Comparison of Safety

By Craig B. Langman, Larry A. Greenbaum, Minnie Sarwal, Paul Grimm, Patrick Niaudet, Georges Descheˆnes, Elisabeth Cornelissen, Denis Morin, Pierre Cochat, Debora Matossian, Segolene Gaillard, Mary Jo Bagger, Patrice Rioux

Year: 2012

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Infantile Nephropathic Cystinosis – Standards of Care

By Galina Nesterova, William A. Gahl

Year: 2012

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Cystinosis: the Evolution of a Treatable Disease

By Galina Nesterova, William A. Gahl

Year: 2012

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Treatment of Cystinosis with Delayed-release Cysteamine: 6-year Follow-up

By Ranjan Dohil, Betty L. Cabrera

Year: 2012

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Growth Retardation in Children with Cystinosis

By Besouw M, Levtchenko E.

Year: 2010

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Pharmacokinetics of Entericcoated Cysteamine Bitartrate in Healthy Adults: a Pilot Study

By Jon A. Gangoiti, Meredith Fidler, Betty L. Cabrera, Jerry A. Schneider, Bruce A. Barshop, Ranjan Dohil

Year: 2010

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The Pathogenesis of Cystinosis: Mechanisms Beyond Cystine Accumulation

By Martijn J. Wilmer, Francesco Emma, Elena N. Levtchenko

Year: 2010

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Raptor Pharmaceutical Corp. Announces Publication of Results from Phase 2a Trial of DR Cysteamine for Treatment of Cystinosis

By Raptor Pharmaceutical Corp.

Year: 2010

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Long-term Outcome of Nephropathic Cystinosis: a 20-year Single-center Experience

By Marcella Greco, Milena Brugnara, Marco Zaffanello, Anna Taranta, Anna Pastore, Francesco Emma

Year: 2010

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