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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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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Opthalmological

Year: 1987

Removal of Corneal Crystals by Topical Cysteamine in Nephropathic Cystinosis

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

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Opthalmological

Year: 2000

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

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Psychosocial

Year: 2000

Chronic Illness May Affect a Child’s Social Development

By Healthyplace.com

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Cysteamine Treatment

Year: 2011

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

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Cysteamine Treatment

Year: 2009

The Importance of Accurate Cystine Level Testing

By Neil Dalton

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Cysteamine Treatment

Year: 2012

Cysteamine Therapy: a Treatment for Cystinosis, Not a Cure

By Stephanie Cherqui

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Cysteamine Treatment

Year: 2012

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

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Dental

Year: 2010

Craniofacial and Dental Findings in Cystinosis

By CW Bassim, P Gautam, DL Domingo, JZ Balog, JP Guadagnin , WA Gahl, TC Hart

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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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Genetics

Year: 2013

Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis

By Neveen A. Soliman, Mohamed A. Elmonem, Lambertus van den Heuvel, Rehab H. Abdel Hamid, Mohamed Gamal, Inge Bongaers, Sandrine Marie, Elena Levtchenko

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Genetics

Year: 2012

Hematopoietic Stem Cell Gene Therapy for Multisystemic Lysosomal Storage Disorder Cystinosis

By Frank Harrison, Brian A Yeagy, Celine J Rocca, Donald B Kohn, Daniel R Salomon, Stephanie Cherqui

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Genetics

Year: 1982

Adult Cystinosis: Electron Microscopy in the Conjunctiva

By F.H. Stefani, S. Vogel

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Genetics

Year: 2008

Identification and Subcellular Localization of a New Cystinosis Isoform

By Anna Taranta, Stefania Petrini, Alessia Palma, Liliana Mannucci, Martijn J. Wilmer, Veronica De Luca, Francesca Diomedi-Camassei, Serena Corallini, Francesco Bellomo, Lambert P. van den Heuvel, Elena N. Levtchenko, Francesco Emma

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Genetics

Year: 2009

Cystinosis Gene Review

By Galina Nesterova, William A. Gahl

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Genetics

Year: 2009

Renal Phenotype of the Cystinosis Mouse Model is Dependent Upon Genetic Background

By Nathalie Nevo, Marie Chol, Anne Bailleux, Vasiliki Kalatzis, Ludivine Morisset, Olivier Devuyst, Marie-Claire Gubler, Corinne Antignac

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