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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Cystinosis Overview

Year: 2016

Ocular Complications of Infantile Nephropathic Cystinosis

By Rachel J. Bishop

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Cystinosis Overview

Year: 2016

Bone Complications of Cystinosis

By Craig B. Langman

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Cystinosis Overview

Year: 2016

Cystinosis: a review

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

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Cystinosis Overview

Year: 2015

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

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Nephrology System

Year: 2015

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

By Larry A. Greenbaum

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Cystinosis Overview

Year: 2014

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

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Nephrology System

Year: 2014

The Proximal Tubule in Cystinosis: Fight or Flight?

By Robert L. Chevalier

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Cystinosis Overview

Year: 2014

Improving the Prognosis of Nephropathic Cystinosis

By Martine TP Besouw, Elena N Levtchenko

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Cysteamine Treatment

Year: 2014

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

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Cystinosis Overview

Year: 2013

Cystinosis Research Network – a Patient Advocacy Group

By Jose Morales

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Cysteamine Treatment

Year: 2014

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

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Cysteamine Treatment

Year: 2012

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

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Cystinosis Overview

Year: 2012

Infantile Nephropathic Cystinosis – Standards of Care

By Galina Nesterova, William A. Gahl

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Cystinosis Overview

Year: 2012

Cystinosis: the Evolution of a Treatable Disease

By Galina Nesterova, William A. Gahl

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Cysteamine Treatment

Year: 2012

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

By Ranjan Dohil, Betty L. Cabrera

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Endocrine System

Year: 2010

Growth Retardation in Children with Cystinosis

By Besouw M, Levtchenko E.

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Cysteamine Treatment

Year: 2010

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

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Cystinosis Overview

Year: 2010

The Pathogenesis of Cystinosis: Mechanisms Beyond Cystine Accumulation

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

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Cysteamine Treatment

Year: 2010

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

By Raptor Pharmaceutical Corp.

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Cystinosis Overview

Year: 2010

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

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Circulatory Systems

Year: 2009

Ventricular Noncompaction in a Female Patient with Nephropathic Cystinosis: a Case Report

By Ibrar Ahmed, Thanh Trung Phan, Graham W Lipkin, Michael Frenneau

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Genetics

Year: 2009

Novel Conditionally Immortalized Human Proximal Tubule Cell Line Expressing Functional Influx and Efflux Transporters

By Martijn J. Wilmer, Moin A. Saleem, Rosalinde Masereeuw, Lan Ni, Thea J. van der Velden, Frans G. Russel, Peter W. Mathieson, Leo A. Monnens, Lambertus P. van den Heuvel, Elena N. Levtchenko

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Cysteamine Treatment

Year: 2009

Evaluation of Novel Prodrugs for the Treatment of Nephropathic Cystinosis

By Rachel Knott, Graeme Kay, Donald Cairns

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Digestive System

Year: 2008

Cholestatic Liver Disease in Long-term Infantile Nephropathic Cystinosis

By Cornelis T, Claes K, Gillard P, Nijs E, Roskams T, Lombaerts R, Nevens F, Cassiman D.

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Nervous System

Year: 2008

Early Intervention Trial for Visual Processing Deficit in Cystinosis

By Doris Trauner

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Nervous System

Year: 2008

Long-term Tracking of Nuerological Complications of Encephalopathy and Myopathy in a Patient with Nephropathic Cystinosis: a Case Report

By Marcus Müller, Andrea Baumeier, EB Ringelstein, IW Husstedt

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Nervous System

Year: 2007

Specific Cognitive Deficits in Young Children with Cystinosis: Evidence for an Early Effect of the Cystinosis Gene on Neural Function

By Doris A. Trauner, Amy M. Spilkin, Jennifer Williams, Lynne Babchuck

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Nephrology System

Year: 2007

Giant Cell Tranformation of Podocytes: A Unique Histological Feature Associated with Cystinosis

By Sharma A, Gupta R, Sethi SK, Bagga A, Dinda AK

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Nervous System

Year: 2007

Non-Verbal Deficits in Young Children With a Genetic Metabolic Disorder: WPPSI-III Performance in Cystinosis

By Amy M. Spilkin, Angela O. Ballantyne, Lynne R. Babchuck, Doris A. Trauner

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Nervous System

Year: 2007

Cystine Accumulation in the CNS Results in Severe Age-related Memory Deficits

By Tangui Maurice, Claire Hippert, Nicolas Serratrice, Gregor Dubois, Chantal Jacquet, Corinne Antignac, Eric J. Kremer, Vasiliki Kalatzis

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