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: 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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Cysteamine Treatment

Year: 2003

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

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Cystinosis Overview

Year: 2015

Cystinosis

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

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Adults

Year: 2016

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

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Adults

Year: 2016

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

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Cystinosis Overview

Year:

Cystinosis – General Brochure

By Cystinosis Research Network

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Cystinosis Overview

Year:

Cystinosis – Medical Brochure

By Cystinosis Research Network

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WBC Testing

Year: 2009

WBC Cystine Handout – Orphan Europe

By

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Neuropsychology/Education

Year: 2005

Behavioral Profile of Children with Infantile Nephropathic Cystinosis

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

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Opthalmological

Year: 2018

Latest Clinical Approaches in the Ocular Management of Cystinosis: A Review of Current Practice and Opinion from the Ophthalmology Cystinosis Forum

By Biswas S, Gaviria M2, Malheiro L, Marques JP, Giordano V, Liang H.

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Opthalmological

Year: 2018

Ocular Changes in Nephropathic Cystinosis: The Course of the Gold-dust

By Flockerzi E, Daas L, Schlötzer-Schrehardt U, Zimpfer A, Bohle R, Seitz B.

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Opthalmological

Year: 2018

Nephropatic Cystinosis: Report of One Case

By Krall P, Nualart D, Grandy J.

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Opthalmological

Year: 2017

Clinical Practice: A Proposed Standardized Ophthalmological Assessment for Patients with Cystinosis.

By Pinxten AM, Hua MT, Simpson J, Hohenfellner K, Levtchenko E, Casteels I.

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Genetics

Year: 2008

Study of ATP Metabolism in Human Cystinotic Proximal Tubular Cell and in Humans with Cystinosis in Vivo

By E. Levtchenko, M. Wilmer

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Genetics

Year: 2009

Successful Treatment of the Murine Model of Cystinosis Using Bone Marrow Cell Transplantation

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

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Genetics

Year: 2010

The Redox Status of Cystinotic Fibroblasts

By Victor Vitvitsky, Marc Witcher, Ruma Banerjee, Jess Thoene

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Genetics

Year: 2010

The Incidence of Atubular Glomeruli in Nephropathic Cystinosis Renal Biopsies

By Christopher P. Larsen, Patrick D. Walker, Jess G. Thoene

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Genetics

Year: 2011

Kidney Preservation by Bone Marrow Cell Transplantation in Hereditary Nephropathy

By Brian A. Yeagy, Frank Harrison, Marie-Claire Gubler , James A. Koziol, Daniel R. Salomon, Stephanie Cherqui

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