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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Behavioral Profile of Children with Infantile Nephropathic Cystinosis

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

Year: 2005

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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.

Year: 2018

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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.

Year: 2018

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Nephropatic Cystinosis: Report of One Case

By Krall P, Nualart D, Grandy J.

Year: 2018

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

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

Year: 2017

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

By E. Levtchenko, M. Wilmer

Year: 2008

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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

Year: 2009

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The Redox Status of Cystinotic Fibroblasts

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

Year: 2010

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The Incidence of Atubular Glomeruli in Nephropathic Cystinosis Renal Biopsies

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

Year: 2010

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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

Year: 2011

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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

Year: 2011

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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

Year: 2010

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Growth Hormone in Cystinosis

By Craig B. Langman

Year:

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Holistic Care and Self Help Resources

By

Year:

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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

Year: 2010

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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

Year: 2011

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

By Nancy Huynh, William A Gahl, Rachel J Bishop

Year: 2013

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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

Year: 2003

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

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

Year: 2000

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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

Year: 1990

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Development of a Cysteamine in Situ Gelling System for the Eyes

By Bolanle Lawal

Year: 2008

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Cystinosis Patient Survey Data Analysis Final Report

By

Year: 2010

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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

Year: 1998

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Removal of Corneal Crystals by Topical Cysteamine in Nephropathic Cystinosis

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

Year: 1987

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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

Year: 2000

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Chronic Illness May Affect a Child’s Social Development

By Healthyplace.com

Year: 2000

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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

Year: 2011

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The Importance of Accurate Cystine Level Testing

By Neil Dalton

Year: 2009

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Cysteamine Therapy: a Treatment for Cystinosis, Not a Cure

By Stephanie Cherqui

Year: 2012

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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

Year: 2012

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