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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Adults

Year: 2020

Grip Strength in Adults and Children with Cystinosis

By Helina Iyob-Tessema, Chia-Shi Wang, Sabina Kennedy, Loretta Reyes, Stella Shin, Larry A. Greenbaum and Julien Hogan

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Nephrology System

Year: 2020

Long-term psychosocial outcomes of adults transplanted in childhood: A social work perspective

By Lynn Puma, Maya Doyle

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Circulatory Systems

Year: 2020

Subtle cardiac dysfunction in nephropathic cystinosis: insight from tissue Doppler imaging and 2D speckle tracking echocardiography

By Mohamed H. Afify, Safaa M. Abdelrahman, Hossam I. Mohamed, Rasha Helmy, Gaser Abdelmohsen, Osama Abdelaziz & Neveen A. Soliman

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General

Year: 2020

Coordinated, Cost-effective Care for Rare Disease: The Cystinosis Outpatient Consultation Program at RoMed

By Katharina Hohenfellner, Jens Deerberg-Wittram

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Orthopedic

Year: 2020

Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy

By Irma Machuca-Gayet, Thomas Quinaux, Aurélia Bertholet-Thomas, Ségolène Gaillard, Débora Claramunt-Taberner, Cécile Acquaviva-Bourdain and Justine Bacchetta

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Adults

Year: 2020

Adult Complications of Nephropathic Cystinosis: a Systematic Review

By Rachel Nora Kasimer, Craig B Langman

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Neurological

Year: 2020

Impaired auditory sensory memory in Cystinosis despite typical sensory processing: A high-density electrical mapping study of the mismatch negativity (MMN)

By Ana A. Francisco, John J.Foxe, Douwe J.Horsthuis, Sophie Molholm

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Cystinosis Overview

Year: 2019

Molecular Based Newborn Screening in Germany: Follow-up for Cystinosis

By Katharina Hohenfellner, Carsten Bergmann, Tobias Fleige, Nils Janzen, Siegfried Burggraf, Bernd Olgemöller, William A. Gahl, Ludwig Czibere, Sonja Froschauer, Wulf Röschinger, Katharina Vill, Erik Harms, Uta Nennstiel

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Orthopedic

Year: 2019

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

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Opthalmological

Year: 2018

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

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Opthalmological

Year: 2017

Diagnosis of Nephropathic Cystinosis in a Child During Routine Eye Exam

By Mahmut Ecel, Ayça Sarı, Ali Delibaş

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Opthalmological

Year: 2017

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

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Opthalmological

Year: 2017

Efficacy of Topical Cysteamine in Nephropathic Cystinosis

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

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Opthalmological

Year: 2017

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

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Opthalmological

Year: 2017

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

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Opthalmological

Year: 2017

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.

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Opthalmological

Year: 2016

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

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

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Opthalmological

Year: 2016

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

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Opthalmological

Year: 2016

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

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

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Opthalmological

Year: 2015

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

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

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Opthalmological

Year: 2015

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

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Opthalmological

Year: 2015

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

By Branko Radojkovic

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Opthalmological

Year: 2014

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

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Transition

Year: 2014

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

By Maya Doyle, Allison Werner-Lin

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Nutrition

Year: 2013

Dietary Considerations for Infantile Nephropathic Cystinosis

By Kelly Rulle

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Other Resources

Year: 2012

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

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Cysteamine Treatment

Year: 2012

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

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Adults

Year: 2009

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

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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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Opthalmological

Year: 2007

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

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