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: 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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Nervous System

Year: 2007

Behavior in Children with a Chronic Illness: A Descriptive Study of Child Characteristics, Family Adjustment, and School Issues in Children with Cystinosis

By Amy Spilkin, Angela Ballantyne

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Cysteamine Treatment

Year: 2006

Understanding Intestinal Cysteamine Bitartrate Absorption

By Ranjan Dohil, Meredith Fidler, Bruce A. Barshop, Jon Gangoiti, Reena Deutsch, Michale Martin, Jerry A. Schneider

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Circulatory Systems

Year: 2006

Coronary Artery and Other Vascular Calcifications in Patients with Cystinosis after Kidney Transplantation

By Masako Ueda, Kevin O’Brien, Douglas R. Rosing, Alexander Ling, Robert Kleta, Dorothea McAreavey, Isa Bernardini, William A. Gahl

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Cysteamine Treatment

Year: 2006

A Deeper Look Into Cysteamine Absorption For The Treatement Of Cystinosis

By Robert Kleta

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Circulatory Systems

Year: 2006

Can Cystinosis Cause Coronary Artery Dilatation?

By S. Olgar, K. Nisli, A. Dinadar, R.E. Omeroglu, T. Ertugrul

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Cysteamine Treatment

Year: 2006

Pharmacokinetics of Cysteamine Bitartrate Following Gastrointestinal Infustion

By Meredith C. Fidler, Bruce A. Barshop, Jon A. Gangoiti, Reena Deutsch, Michael Martin, Jerry A. Schneider, Ranjan Dohil

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Nervous System

Year: 2005

Behavioral Profiles of Children with Infantile Nephropathic Cystinosis

By Gustavo Delgado, Amy Schatz, Sharon Nichols, Mark Appelbaum, Doris Trauner

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Cysteamine Treatment

Year: 2005

Treatment of YAC128 Mice and Their Wild-type Littermates with Cystamine Does Not Lead to its Accumulation in Plasma or Brain: Implications for the Treatment of Huntington Disease

By John T. Pinto, Jeremy M. Van Raamsdonk, Blair R. Leavitt, Michael R. Hayden, Thomas M. Jeitner, Howard T. Thaler, Boris F. Krasnikov, Arthur J. L. Cooper

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Lymphatic System

Year: 2005

High Cystine in Platelets from Patients with Nephropathic Cystinosis: a Chemical, Ultrastructural, and Functional Evaluation

By L Olcay, E Erdemli, M Kesimer, Y Bu¨yu¨kas¸ık, H Okur, H S Kalkanog˘lu, T Cos¸kun, C¸ Altay

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Cystinosis Overview

Year: 2005

Consensus Statement: First NIH/Office of Rare Diseases Conference on Cystinosis: Past, Present, and Future

By Robert Kleta, Frederick Kaskel, Ranjan Dohil, Paul Goodyer, Lisa M. GuayWoodford, Erik Harms, Julie R. Ingelfinger, Vera H. Koch, Craig B. Langman, Mary B. Leonard, Roslyn B. Mannon, Minnie Sarwal, Jerry A. Schneider, Flemming Skovby, Barbara C. Sonies, Jess G. Thoene, Doris A. Trauner, William A. Gahl

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Digestive System

Year: 2005

Swallowing Dysfunction in 101 Patients with Nephropathic Cystinosis: Benefit of Long-term Cysteamine Therapy

By Sonies, Almajid, Kleta, Bernardini, Gahl

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Nervous System

Year: 2004

Idiopathic Intracranial Hypertension in Cystinosis

By Dogulu CF, Tsilou E, Rubin B, Fitzgibbon EJ, Kaiser-Kupper MI, Rennert OM, Gahl WA.

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Circulatory Systems

Year: 2002

Nephropathic cystinosis Associated with Cardiomyopathy: a 27-year Clinical Follow-up

By Mehul P Dixit, Ira Greifer

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