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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Opthalmological

Year: 1987

Removal of Corneal Crystals by Topical Cysteamine in Nephropathic Cystinosis

By Muriel I. Kaiser-Kupfer, Leslie Fujikawa, Toichiro Kuwabara, Sandeep Jain, William A. Gahl

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Opthalmological

Year: 2000

Corneal Crystals in Nephropathic Cystinosis: Natural History and Treatment with Cysteamine Eyedrops

By William A. Gahl, Ernest M. Kuehl, Fumino Iwata, Anne Lindblad, and Muriel I. Kaiser-Kupfert

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Psychosocial

Year: 2000

Chronic Illness May Affect a Child’s Social Development

By Healthyplace.com

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Cysteamine Treatment

Year: 2011

Cysteamine Toxicity in Patients with Cystinosis

By Martine T. P. Besouw, Richard Bowker, Jean-Paul Dutertre, Francesco Emma, William A. Gahl, Marcella Greco, Marc R. Lilien, John McKiernan, Francois Nobili, Jerry A. Schneider, Flemming Skovby, Lambertus P. van den Heuvel, William G. Van't Hoff, Elena N. Levtchenko

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Cysteamine Treatment

Year: 2009

The Importance of Accurate Cystine Level Testing

By Neil Dalton

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Cysteamine Treatment

Year: 2012

Cysteamine Therapy: a Treatment for Cystinosis, Not a Cure

By Stephanie Cherqui

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Cysteamine Treatment

Year: 2012

Cysteamine Restores Glutathione Redox Status in Cultured Cystinotic Proximal Tubular Epithelial Cells

By Martijn J. Wilmer, Leo A.J. Kluijtmans, Thea J. van der Velden, Peter H. Willems, Peter G. Scheffer, Rosalinde Masereeuw, Leo A. Monnens, Lambertus P. van den Heuvel, Elena N. Levtchenko

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Dental

Year: 2010

Craniofacial and Dental Findings in Cystinosis

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

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Fertility

Year: 2010

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

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Genetics

Year: 2013

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

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Genetics

Year: 2012

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

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Genetics

Year: 1982

Adult Cystinosis: Electron Microscopy in the Conjunctiva

By F.H. Stefani, S. Vogel

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Genetics

Year: 2008

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

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Genetics

Year: 2009

Cystinosis Gene Review

By Galina Nesterova, William A. Gahl

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Genetics

Year: 2009

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

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Genetics

Year: 2007

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

By Corinne Antignac, Vasiliki Kalatzis

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Genetics

Year: 2008

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

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Genetics

Year: 2009

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

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Genetics

Year: 2006

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

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Genetics

Year: 2009

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

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Genetics

Year: 2010

Cystinosis and Mickey Mouse

By Alan Medlar, Robert Kleta

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Genetics

Year: 2010

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

By Zoe Solsby

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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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