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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Neurological

Year: 2023

Neuro-cognitive complications of nephropathic cystinosis

By Doris A. Trauner 

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Neurological

Year: 2022

Cognitive Functions and Behavioural Profiles in Children with Cystinosis Treated with Cysteamine and Correlation with Treatment Duration

By Fatma M. Atia, Weam Ryad Alfaleet, Somaya H. Shaheen and Neveen A. Soliman

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Adults

Year: 2022

Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients

By Elena Levtchenko, Aude Servais, Sally A Hulton, Gema Ariceta, Francesco Emma, David S Game, Karin Lange, Risto Lapatto, Hong Liang, Rebecca Sberro-Soussan, Rezan Topaloglu, Anibh M Das, Nicholas J A Webb, Christoph Wanner

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Reproductive System

Year: 2021

Testicular function in males with infantile nephropathic cystinosis

By J Rohayem, D Haffner, J F Cremers, S Huss, J Wistuba, D Weitzel, S Kliesch, K Hohenfellner

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Reproductive System

Year: 2021

Renal and Extra Renal Manifestations in Adult Zebrafish Model of Cystinosis

By Sante Princiero Berlingerio, Junling He, Lies De Groef, Harold Taeter, Tomas Norton, Pieter Baatsen, Sara Cairoli, Bianca Goffredo, Peter de Witte, Lambertus van den Heuvel, Hans J Baelde, Elena Levtchenko

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Reproductive System

Year: 2021

Human and animal fertility studies in cystinosis reveal signs of obstructive azoospermia, an altered blood-testis barrier and a subtherapeutic effect of cysteamin in testis

By Ahmed Reda, Koenraad Veys, Prashant Kadam, Anna Taranta, Laura Rita Rega, Bianca M Goffredo, Chelsea Camps, Martine Besouw, Daniel Cyr, Maarten Albersen, Carl Spiessens, Liesbeth de Wever, Robert Hamer, Mirian C H Janssen, Kathleen D'Hauwers, Alex Wetzels, Leo Monnens, Lambertus van den Heuvel, Ellen Goossens, Elena Levtchenko

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Reproductive System

Year: 2021

Fertility in Cystinosis

By Ahmed Reda, Koenraad Veys, Martine Besouw 

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Reproductive System

Year: 2022

Pregnancy in Cystinosis Patients with Chronic Kidney Disease: A European Case Series

By Aude Servais, Mirian C. H. Janseen, Hannah Blakey, Marcella Greco, Sandrine Lemoine, Paloma L. Marin-Moreno, David Game, Elena Levtchenko, Graham Lipkin

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Adults

Year: 2022

Transition of Young Adult Kidney Transplant Recipients 

By Mina Matsuda‐Abedini, Stephen D. Marks, Bethany J. Foster

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General

Year: 2022

Expert Guidance on the Multidisciplinary Management of Cystinosis in Adolescent and Adult Patients

By Elena Levtchenko, Aude Servais, Sally A. Hulton, Gema Ariceta, Francesco Emma, David S. Game, Karin Lange, Risto Lapatto, Hong Liang, Rebecca Sberro-Soussan, Rezan Topaloglu, Anibh M. Das, Nicholas J.A. Webb, Christoph Wanner

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Cystinosis Overview

Year: 2022

A Personal History of Cystinosis by Dr. Jerry Schneider

By Jerry Schneider and Elena Levtchenko

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Newborn Screening

Year: 2022

Newborn Screening: Review of its Impact for Cystinosis 

By Katharina Hohenfellner, Rezan Topaloglu, Ewa Elenberg, Gema Ariceta, Galina Nesterova, Neveen A. Soliman

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Cysteamine Treatment

Year: 2021

A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis

By Christina van Stein, Sabrina Klank, Marianne Grüneberg, Chris Ottolenghi, Jürgen Grebe, Janine Reunert, Erik Harms, and Thorsten Marquardt

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Neurological

Year: 2021

Assessing the integrity of auditory processing and sensory memory in adults with cystinosis (CTNS gene mutations)

By Ana A. Francisco, Alaina S. Berruti, Frederick J. Kaskel, John J. Foxe & Sophie Molholm

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Orthopedic

Year: 2022

Muscle and Bone Impairment in Infantile Nephropathic Cystinosis: New Concepts

By Dieter Hafner, Maren Leifheit-Nestler, Candide Alioli and Justine Bacchetta

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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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