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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Management of Bone Disease in Cystinosis: Statement from an International Conference

By Katharina Hohenfellner, Frank Rauch, Gema Ariceta, Atif Awan, Justine Bacchetta, Carsten Bergmann, Susanne Bechtold, Noelle Cassidy, Geroges Deschenes, Ewa Elenberg, William A. Gahl, Oliver Greil, Erik Harms, Nadine Herzig, Bernd Hoppe, Christian Koeppl, Malcolm A. Lewis, Elena Levtchenko, Galina Nesterova, Fernando Santos, Karl P. Schlingmann, Aude Servais, Neveen A. Soliman, Guenther Steidle, Clodagh Sweeney, Ulrike Treikauskas, Rezan Topaloglu, Alexey Tsygin, Koenraad Veys, Rodo v. Vigier, Jozef Zustin, Dieter Haffner

Year: 2019

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Effect of Storage Conditions on Stability of Ophthalmological Compounded Cysteamine Eye Drops.

By Reda A, Van Schepdael A, Adams E, Paul P, Devolder D, Elmonem MA, Veys K, Casteels I, van den Heuvel L, Levtchenko E

Year: 2018

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Diagnosis of Nephropathic Cystinosis in a Child During Routine Eye Exam

By Mahmut Ecel, Ayça Sarı, Ali Delibaş

Year: 2017

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Cysteamine Ophthalmic Hydrogel for the Treatment of Ocular Cystinosis

By Fernández-Ferreiro A, Luaces-Rodríguez A, Díaz-Tomé V, Gil-Martínez M, Rodríguez Ares MT, Touriño Peralba R, Blanco-Méndez J, González-Barcia M, Otero-Espinar FJ, Lamas MJ

Year: 2017

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Efficacy of Topical Cysteamine in Nephropathic Cystinosis

By Al-Hemidan A, Shoughy SS, Kozak I, Tabbara KF

Year: 2017

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Cysteamine Polysaccharide Hydrogels: Study of Extended Ocular Delivery and Bbiopermanence Time by PET Imaging

By Luaces-Rodríguez A, Díaz-Tomé V, González-Barcia M, Silva-Rodríguez J, Herranz M, Gil-Martínez M, Rodríguez-Ares MT, García-Mazás C, Blanco-Mendez J, Lamas MJ, Otero-Espinar FJ, Fernández-Ferreiro A

Year: 2017

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A New Viscous Cysteamine Eye Drops Treatment for Ophthalmic Cystinosis: An Open-Label Randomized Comparative Phase III Pivotal Study

By Liang H, Labbé A, Le Mouhaër J, Plisson C, Baudouin C

Year: 2017

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Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children’s Hospital.

By Martín-Begué 1, Alarcón 2, Wolley-Dod C, Lara LE, Madrid Á, Cano P, Del Toro M, Ariceta G.

Year: 2017

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Preformulation of cysteamine gels for treatment of the ophthalmic complications in cystinosis

By McKenzie B, Kay G, Matthews KH, Knott R, Cairns D

Year: 2016

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Synergistic Cysteamine Delivery Nanowafer as an Efficacious Treatment Modality for Corneal Cystinosis

By Marcano DC, Shin CS, Lee B, Isenhart LC, Liu X, Li F, Jester JV, Pflugfelder SC, Simpson J, Acharya G

Year: 2016

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Effect of pH and Penetration Enhancers on Cysteamine Stability and Trans-corneal Transport

By Pescina S, Carra F, Padula C, Santi P, Nicoli S

Year: 2016

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A Case of Corneal Cystinosis in a Patient with Rickets and Chronic Renal Failure

By Jae Yon Won, Hyung Bin Hwang, Sung Kun Chung

Year: 2015

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Treatment of Inherited Eye Defects by Systemic Hematopoietic Stem Cell Transplantation

By Rocca CJ, Kreymerman A, Ur SN, Frizzi KE, Naphade S, Lau A, Tran T, Calcutt NA, Goldberg JL, Cherqui S

Year: 2015

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Cysteamine Eye Drops in the Treatment of Cystinosis – an Australian Perspective

By Branko Radojkovic

Year: 2015

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A New Gel Formulation of Topical Cysteamine for the Treatment of Corneal Cysteine Crystals in Cystinosis: the Cystadrops OCT-1 Study

By Labbé A, Baudouin C, Deschênes G, Loirat C, Charbit M, Guest G, Niaudet P

Year: 2014

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That Eagle Covering Me: Transitioning and Connected Autonomy for Emerging Adults with Cystinosis

By Maya Doyle, Allison Werner-Lin

Year: 2014

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Dietary Considerations for Infantile Nephropathic Cystinosis

By Kelly Rulle

Year: 2013

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The NIH Clinical Research Nurses’s Poster ‘Cystinosis – Model of Care’ won first place at the International Conference of Clinical Research Nurses

By Ann Peterson, Katie Sarsfield, Celia Ryder

Year: 2012

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Raptor – A Randomized Controlled Crossover Trial

By C.B. Langman, D. Matossian, L.A. Greenbaum, M. Sarwal, P.C. Grimm, P.R. Niaudet, G. Deschenes, D. Marin, E. Cornelissen, P. Cochat, S. Gaillard, M.J. Bogger, P. Rioux

Year: 2012

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Nephropathic Cystinosis: Late Complications of a Multisystemic Disease

By Kimberly Syres, Frank Harrison, Matthew Tadlock, James V. Jester, Jennifer Simpson, Subhojit Roy, Daniel R. Salomon, Stephanie Cherqui

Year: 2009

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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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The Ocular Anomalies in a Cystinosis Animal Model Mimic Disease Pathogenisis

By Vasilik Kalatis, Nicolas Serratrice, Claire Hippert, Oliver Payet, Carl Arndt, Chantal Cazevielle, Tangui Maurice, Christian Hamel, Francois Malecaz, Corinne Antignac, Agnes Muller, Eric J. Kremer

Year: 2007

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Evaluation and Treatment of Gastrointestinal Disease in Children with Cystinosis Receiving Cysteamine

By Ranjan Dohil, Robert O. Newbury, Zachary M. Sellers, Reena Deutsch, Jerry A. Schneider

Year: 2003

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Cystinosis

By Ewa Elenberg, Mary L Windle, Adrian Spitzer, Craig B Langman, Uri S Alon

Year: 2015

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CRN Adult Care Excellence (ACE) Initiative – Executive Summary

By Maya Doyle, Shea Hammond, Colleen Hammond, Mack Maxwell, Minnie Sarwal, Serena Scott, Sue Scott, Paula Frye Shal, Susan Thomas

Year: 2016

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CRN Adult Care Excellence (ACE) Initiative – Results and Recommendations

By Maya Doyle, Shea Hammond, Colleen Hammond, Mack Maxwell, Minnie Sarwal, Serena Scott, Sue Scott, Paula Frye Shal, Susan Thomas

Year: 2016

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Cystinosis – General Brochure

By Cystinosis Research Network

Year:

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Cystinosis – Medical Brochure

By Cystinosis Research Network

Year:

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WBC Cystine Handout – Orphan Europe

By

Year: 2009

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Behavioral Profile of Children with Infantile Nephropathic Cystinosis

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

Year: 2005

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