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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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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Genetics

Year: 2011

The 57 kb Deletion in Cystinosis Patients Extends into TRPV1 Causing Dysregulation of Transcription in Peripheral Blood Mononuclear Cells

By Katy A Freed, John Blangero, Tom Howard, Matthew P Johnson, Joanne E Curran, Yvonne R Garcia, Hao-Chang Lan, Hanna E Abboud, Eric K Moses

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Genetics

Year: 2010

Genetic Basis of Cystinosis in Turkish Patients: a Single-center Experience

By Rezan Topaloglu, Thierry Vilboux, Turgay Coskun, Fatih Ozaltin, Brad Tinloy, Meral Gunay-Aygun, Aysin Bakkaloglu, Nesrin Besbas, Lambert van den Heuvel, Robert Kleta, William A. Gahl

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Growth Hormone

Year:

Growth Hormone in Cystinosis

By Craig B. Langman

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Holistic

Year:

Holistic Care and Self Help Resources

By

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Newborn Screening

Year: 2010

Elevated Concentrations of Seduheptulose in Bloodspots of Patients with Cystinosis Caused by the 57-kb Deletion: Implications for Diagnosis and Neonatal Screening

By M.M.C. Wamelink, E.A. Struys, E.E.W. Jansen, H.J. Blom, T. Vilboux, W.A. Gahl, M. Kömhoff, C. Jakobs, E.N. Levtchenko

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Opthalmological

Year: 2011

Evaluation of Topical Cysteamine Therapy in the CTNS−/− Knockout Mouse Using in Vivo Confocal Microscopy

By Jennifer L. Simpson, Chyong Jy Nien, Kevin J. Flynn, James V. Jester

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Opthalmological

Year: 2013

Cysteamine Ophthalmic Solution 0.44% for the Treatment of Corneal Cystine Crystals in Cystinosis

By Nancy Huynh, William A Gahl, Rachel J Bishop

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Opthalmological

Year: 2003

A Multicentre Randomised Double Masked Clinical Trial of a New Formulation of Topical Cysteamine for the Treatment of Corneal Cystine Crystals in Cystinosis

By E T Tsilou, D Thompson, A S Lindblad, et al

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Opthalmological

Year: 2000

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

By Gahl WA, Kuehl EM, Iwata F, Lindblad A, Kaiser-Kupfer MI

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Opthalmological

Year: 1990

A Randomized Placebo-Controlled Trial of Cysteamine Eye Drops in Nephropathic Cystinosis

By Muriel I. Kaiser-Kupfer, Maria A. Gazzo, Manuel B. Datiles, Rafael C. Caruso, Ernest M. Kuehl, William A. Gahl

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Opthalmological

Year: 2008

Development of a Cysteamine in Situ Gelling System for the Eyes

By Bolanle Lawal

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Opthalmological

Year: 2010

Cystinosis Patient Survey Data Analysis Final Report

By

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Opthalmological

Year: 1998

A Randomized Clinical Trial of Topical Cysteamine Disulfide (Cystamine) versus Free Thiol (Cystaemine) in the Treatment of Corneal Cystine Crystals in Cystinosis

By Fumino Iwata, Ernest M. Kuehl, George F. Reed, Lessie M. McCain, William A. Gahl, Muriel I. Kaiser-Kupfer

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