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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Genetics

Year: 2004

Potential Role of Aptosis in Development of the Cystinotic Phenotype

By Margaret A. Park, Jess G. Thone

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Respiratory System

Year: 2001

Pulmonary Dysfunction in Adults with Nephropathic Cystinosis

By Anikster Y, Lacbawan F, Brantly M, Gochuico BL, Avila NA, Travis W, Gahl WA

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Respiratory System

Year: 2012

Respiratory Muscle Weakness Guidelines

By Richard H. Simon

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Adults

Year: 2007

Nephropathic Cystinosis in Adults: Natural History and Effects of Oral Cysteamine Therapy

By William A. Gahl, Joan Z. Balog, Robert Kleta

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Adults

Year: 2016

Family Strategies for Living with Rare Disease: The Experience of Cystinosis

By Maya Doyle, Allison Werner-Lin

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Cysteamine Treatment

Year: 2016

Switching from Immediate- to Extended-release Cysteamine in Nephropathic Cystinosis Patients

By Thurid Ahlenstiel-Grunow, Nele K. Kanzelmeyer, Kerstin Froede, Martin Kreuzer, Jens Drube, Christian Lerch, Lars Pape

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Cysteamine Treatment

Year: 2014

Cysteamine (Cystagon®) Adherence in Patients with Cystinosis in Spain

By Gema Ariceta, Enrique Lara, Juan A. Camacho, Federico Oppenheimer, Julia Vara, Fernando Santos, Miguel Angel Muñoz, Carmen Cantarell, Marta Gil Calvo, Rafael Romero, Blanca Valenciano , Víctor García-Nieto, Maria José Sanahuja, José Crespo, Maria Luisa Justa, Adela Urisarri, Rafael Bedoya, Alberto Bueno, Antonio Daza, Juan Bravo, Francisco Llamas, Luis Antonio Jiménez del Cerro

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Cysteamine Treatment

Year: 2018

A Phase 1 Pharmacokinetic Study of Cysteamine Bitartrate Delayed-Release Capsules Following Oral Administration with Orange Juice, Water, or Omeprazole in Cystinosis

By Danielle Armas, Robert J. Holt, Nils F. Confer, Gregg C. Checani, Mohammad Obaidi, Yuli Xie, Meg Brannagan

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Cysteamine Treatment

Year: 2013

Cysteamine: an Old Drug with New Potential

By Martine Besouw, Rosalinde Masereeuw, Lambert van den Heuvel, Elena Levtchenko

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Cysteamine Treatment

Year: 2012

Halitosis in Cystinosis Patients After Administration of Immediate-release Cysteamine Bitartrate Compared to Delayed-release Cysteamine Bitartrate

By Martine Besouw, Albert Tangerman, Elisabeth Cornelissen, Patrice Rioux, Elena Levtchenko

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Cysteamine Treatment

Year: 2012

Cysteamine Therapy Delays the Progression of Nephropathic Cystinosis in Late Adolescents and Adults

By Albane Brodin-Sartorius, Marie-Josèphe Tête, Patrick Niaude, Corinne Antignac, Geneviève Guest, Chris Ottolenghi, Marina Charbit, Dominique Moyse, Christophe Legendre, Philippe Lesavre, Pierre Cochat, Aude Servais

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Cysteamine Treatment

Year: 2013

Pharmacokinetic Studies of Cysteamine Bitartrate

By Ranjan Dohil, Patrice Rioux

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Cysteamine Treatment

Year: 2010

Twice-Daily Cysteamine Bitartrate Therapy for Children with Cystinosis

By Ranjan Dohil, Meredith Fidler, Jon A. Gangoiti, Frederick Kaskel, Jerry A. Schneider, Bruce A. Barshop

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Cysteamine Treatment

Year: 2010

Long-Term Treatment of Cystinosis in Children with Twice-Daily Cysteamine

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

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Cystinosis Overview

Year: 2018

Infantile Nephropathic Cystinosis in Sulaimani Pediatric Teaching Hospital: A Retrospective Cohort Study

By Hunar Jamal Hussein, Khalid Hama Salih, Adnan Mohammed Hasan

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Cystinosis Overview

Year: 2017

Ophthalmology Cystinosis Forum

By Rachel J. Bishop, Katharina Hohenfellner, Hong Liang

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Cystinosis Overview

Year: 2017

Endocrine Complications of Cystinosis

By Elena Levtchenko

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Cystinosis Overview

Year: 2017

Neurocognitive Complications of Cystinosis

By Doris Trauner

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Cystinosis Overview

Year: 2017

Myopathy and Less Frequent Complications of Cystinosis

By Jess G. Thoene

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Cystinosis Overview

Year: 2017

Pulmonary Complications of Cystinosis

By Richard H. Simon

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Cystinosis Overview

Year: 2017

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

By Jess G. Thoene

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Cystinosis Overview

Year: 2017

Oxygen Use for Individuals with Cystinosis with Severe Muscle Weakness

By Richard H. Simon, Susan E. Thomas

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Cystinosis Overview

Year: 2016

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

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Cystinosis Overview

Year: 2016

Information for General Practitioners about Cystinosis

By Elena Levtchenko, Marlies Cornelissen, Mirian Janssen

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Cystinosis Overview

Year: 2016

Introduction to “Extra-Renal Complications of Cystinosis”

By Jess G. Thoene

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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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