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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Craniofacial and Dental Findings in Cystinosis

By CW Bassim, P Gautam, DL Domingo, JZ Balog, JP Guadagnin , WA Gahl, TC Hart

Year: 2010

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Fertility Status in Male Cystinosis Patients Treated with Cysteamine

By Martine T. P. Besouw, Jan A. M. Kremer, Mirian C. H. Janssen, Elena N. Levtchenko

Year: 2010

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Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis

By Neveen A. Soliman, Mohamed A. Elmonem, Lambertus van den Heuvel, Rehab H. Abdel Hamid, Mohamed Gamal, Inge Bongaers, Sandrine Marie, Elena Levtchenko

Year: 2013

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Hematopoietic Stem Cell Gene Therapy for Multisystemic Lysosomal Storage Disorder Cystinosis

By Frank Harrison, Brian A Yeagy, Celine J Rocca, Donald B Kohn, Daniel R Salomon, Stephanie Cherqui

Year: 2012

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Adult Cystinosis: Electron Microscopy in the Conjunctiva

By F.H. Stefani, S. Vogel

Year: 1982

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Identification and Subcellular Localization of a New Cystinosis Isoform

By Anna Taranta, Stefania Petrini, Alessia Palma, Liliana Mannucci, Martijn J. Wilmer, Veronica De Luca, Francesca Diomedi-Camassei, Serena Corallini, Francesco Bellomo, Lambert P. van den Heuvel, Elena N. Levtchenko, Francesco Emma

Year: 2008

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Cystinosis Gene Review

By Galina Nesterova, William A. Gahl

Year: 2009

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Renal Phenotype of the Cystinosis Mouse Model is Dependent Upon Genetic Background

By Nathalie Nevo, Marie Chol, Anne Bailleux, Vasiliki Kalatzis, Ludivine Morisset, Olivier Devuyst, Marie-Claire Gubler, Corinne Antignac

Year: 2009

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Development, and in Vivo Testing, of Novel Therapies for Cystinosis

By Corinne Antignac, Vasiliki Kalatzis

Year: 2007

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Gene Transfer May Be Preventative But Not Curative for a Lysosomal Transport Disorder

By Claire Hippert, Grégor Dubois, Carole Morin, Olivier Disson, Sandy Ibanes, Chantal Jacquet, Reto Schwendener, Corinne Antignac, Eric J Kremer, Vasiliki Kalatzis

Year: 2008

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Heterozygous Mutation of OPA1 in Drosophila Shortens Lifespan Mediated through Increased Reactive Oxygen Species Production

By Sha Tang, Phung Khanh , Stephanie Tse, Douglas C. Wallace, Taosheng Huang

Year: 2009

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Increased Aptosis in Cystinotic Fibroblasts and Renal Proximal Tubule Epithelial Cells Results From Cysteinylation of Protein Kinase C8

By Margaret A. Park, Vojislav Pejovic, Kathryn G. Kerisit, Sacha Junius, Jess G. Thoene

Year: 2006

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Maternal Uniparental Heterodisomy of Chromosome 17 in a Patient with Nephropathic Cystinosis

By Anne-Sophie Lebre, Vincent Morinie`re, Olivier Dunand, Albert Bensman, Nicole Morichon-Delvallez, Corinne Antignac

Year: 2009

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Cystinosis and Mickey Mouse

By Alan Medlar, Robert Kleta

Year: 2010

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Leading Cystinosis Researcher Says Advancements In Treatments, Cure Of Rare Disease May Be Hastened Following First International Symposium

By Zoe Solsby

Year: 2010

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Potential Role of Aptosis in Development of the Cystinotic Phenotype

By Margaret A. Park, Jess G. Thone

Year: 2004

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Pulmonary Dysfunction in Adults with Nephropathic Cystinosis

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

Year: 2001

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Respiratory Muscle Weakness Guidelines

By Richard H. Simon

Year: 2012

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

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

Year: 2007

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

By Maya Doyle, Allison Werner-Lin

Year: 2016

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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

Year: 2016

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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

Year: 2014

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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

Year: 2018

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Cysteamine: an Old Drug with New Potential

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

Year: 2013

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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

Year: 2012

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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

Year: 2012

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Pharmacokinetic Studies of Cysteamine Bitartrate

By Ranjan Dohil, Patrice Rioux

Year: 2013

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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

Year: 2010

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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

Year: 2010

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

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

Year: 2018

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