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

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

Year: 2009

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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

Year: 2009

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Evaluation of Novel Prodrugs for the Treatment of Nephropathic Cystinosis

By Rachel Knott, Graeme Kay, Donald Cairns

Year: 2009

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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.

Year: 2008

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Early Intervention Trial for Visual Processing Deficit in Cystinosis

By Doris Trauner

Year: 2008

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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

Year: 2008

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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

Year: 2007

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

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

Year: 2007

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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

Year: 2007

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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

Year: 2007

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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

Year: 2007

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Understanding Intestinal Cysteamine Bitartrate Absorption

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

Year: 2006

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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

Year: 2006

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A Deeper Look Into Cysteamine Absorption For The Treatement Of Cystinosis

By Robert Kleta

Year: 2006

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Can Cystinosis Cause Coronary Artery Dilatation?

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

Year: 2006

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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

Year: 2006

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Behavioral Profiles of Children with Infantile Nephropathic Cystinosis

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

Year: 2005

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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

Year: 2005

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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

Year: 2005

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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

Year: 2005

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

By Sonies, Almajid, Kleta, Bernardini, Gahl

Year: 2005

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Idiopathic Intracranial Hypertension in Cystinosis

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

Year: 2004

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

By Mehul P Dixit, Ira Greifer

Year: 2002

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2002 New England Journal of Medicine: Cystinosis

By William Gahl, Jess Thoene, Jerry Schneider

Year: 2002

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Pulmonary Dysfunction in Adults with Nephropathic Cystinosis

By Yair Anikster, Felicitas Lacbawan, Mark Brantly, Bernadette L. Gochuico, Nilo A. Avila, William Travis, William A. Gahl

Year: 2001

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Neurobehavioral Consequences of a Genetic Metabolic Disorder: Visual Processing Deficits in Infantile Nephropathic Cystinosis

By Angela Ballantyne, Doris Trauner

Year: 2000

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Neurologic and Cognitive Deficits in Children with Cystinosis

By Doris A. Trauner, Christopher Chase, Joseph Scheller, Barrett Katz, Jerry A. Schneider

Year: 1998

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Feeding Problems in Cystinosis

By Elenberg, Norling, Kleinman, Ingelfinger

Year: 1998

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Academic Achievement in Individuals with Infantile Nephropathic Cystinosis

By Angela O. Ballantyne, Kathleen M. Scarvie, Doris A. Trauner

Year: 1997

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Visuomotor Performance in Children with Infantile Nephropathic Cystinosis

By Doris A. Trauner

Year: 1996

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