Publications & Guides

Print Friendly, PDF & Email

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.

Search
Generic filters
Exact matches only
loader
Nervous System

Year: 2007

Behavior in Children with a Chronic Illness: A Descriptive Study of Child Characteristics, Family Adjustment, and School Issues in Children with Cystinosis

By Amy Spilkin, Angela Ballantyne

Download PDF

Cysteamine Treatment

Year: 2006

Understanding Intestinal Cysteamine Bitartrate Absorption

By Ranjan Dohil, Meredith Fidler, Bruce A. Barshop, Jon Gangoiti, Reena Deutsch, Michale Martin, Jerry A. Schneider

Download PDF

Circulatory Systems

Year: 2006

Coronary Artery and Other Vascular Calcifications in Patients with Cystinosis after Kidney Transplantation

By Masako Ueda, Kevin O’Brien, Douglas R. Rosing, Alexander Ling, Robert Kleta, Dorothea McAreavey, Isa Bernardini, William A. Gahl

Download PDF

Cysteamine Treatment

Year: 2006

A Deeper Look Into Cysteamine Absorption For The Treatement Of Cystinosis

By Robert Kleta

Download PDF

Circulatory Systems

Year: 2006

Can Cystinosis Cause Coronary Artery Dilatation?

By S. Olgar, K. Nisli, A. Dinadar, R.E. Omeroglu, T. Ertugrul

Download PDF

Cysteamine Treatment

Year: 2006

Pharmacokinetics of Cysteamine Bitartrate Following Gastrointestinal Infustion

By Meredith C. Fidler, Bruce A. Barshop, Jon A. Gangoiti, Reena Deutsch, Michael Martin, Jerry A. Schneider, Ranjan Dohil

Download PDF

Nervous System

Year: 2005

Behavioral Profiles of Children with Infantile Nephropathic Cystinosis

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

Download PDF

Cysteamine Treatment

Year: 2005

Treatment of YAC128 Mice and Their Wild-type Littermates with Cystamine Does Not Lead to its Accumulation in Plasma or Brain: Implications for the Treatment of Huntington Disease

By John T. Pinto, Jeremy M. Van Raamsdonk, Blair R. Leavitt, Michael R. Hayden, Thomas M. Jeitner, Howard T. Thaler, Boris F. Krasnikov, Arthur J. L. Cooper

Download PDF

Lymphatic System

Year: 2005

High Cystine in Platelets from Patients with Nephropathic Cystinosis: a Chemical, Ultrastructural, and Functional Evaluation

By L Olcay, E Erdemli, M Kesimer, Y Bu¨yu¨kas¸ık, H Okur, H S Kalkanog˘lu, T Cos¸kun, C¸ Altay

Download PDF

Cystinosis Overview

Year: 2005

Consensus Statement: First NIH/Office of Rare Diseases Conference on Cystinosis: Past, Present, and Future

By Robert Kleta, Frederick Kaskel, Ranjan Dohil, Paul Goodyer, Lisa M. GuayWoodford, Erik Harms, Julie R. Ingelfinger, Vera H. Koch, Craig B. Langman, Mary B. Leonard, Roslyn B. Mannon, Minnie Sarwal, Jerry A. Schneider, Flemming Skovby, Barbara C. Sonies, Jess G. Thoene, Doris A. Trauner, William A. Gahl

Download PDF

Digestive System

Year: 2005

Swallowing Dysfunction in 101 Patients with Nephropathic Cystinosis: Benefit of Long-term Cysteamine Therapy

By Sonies, Almajid, Kleta, Bernardini, Gahl

Download PDF

Nervous System

Year: 2004

Idiopathic Intracranial Hypertension in Cystinosis

By Dogulu CF, Tsilou E, Rubin B, Fitzgibbon EJ, Kaiser-Kupper MI, Rennert OM, Gahl WA.

Download PDF

Circulatory Systems

Year: 2002

Nephropathic cystinosis Associated with Cardiomyopathy: a 27-year Clinical Follow-up

By Mehul P Dixit, Ira Greifer

Download PDF

Cystinosis Overview

Year: 2002

2002 New England Journal of Medicine: Cystinosis

By William Gahl, Jess Thoene, Jerry Schneider

Download PDF

Respiratory System

Year: 2001

Pulmonary Dysfunction in Adults with Nephropathic Cystinosis

By Yair Anikster, Felicitas Lacbawan, Mark Brantly, Bernadette L. Gochuico, Nilo A. Avila, William Travis, William A. Gahl

Download PDF

Nervous System

Year: 2000

Neurobehavioral Consequences of a Genetic Metabolic Disorder: Visual Processing Deficits in Infantile Nephropathic Cystinosis

By Angela Ballantyne, Doris Trauner

Download PDF

Nervous System

Year: 1998

Neurologic and Cognitive Deficits in Children with Cystinosis

By Doris A. Trauner, Christopher Chase, Joseph Scheller, Barrett Katz, Jerry A. Schneider

Download PDF

Digestive System

Year: 1998

Feeding Problems in Cystinosis

By Elenberg, Norling, Kleinman, Ingelfinger

Download PDF

Nervous System

Year: 1997

Academic Achievement in Individuals with Infantile Nephropathic Cystinosis

By Angela O. Ballantyne, Kathleen M. Scarvie, Doris A. Trauner

Download PDF

Nervous System

Year: 1996

Visuomotor Performance in Children with Infantile Nephropathic Cystinosis

By Doris A. Trauner

Download PDF

Nervous System

Year: 1994

Global Intellectual Deficits in Cystinosis

By Barbara L.H. Williams, Jerry A. Schneider, Doris A. Trauner

Download PDF

Reproductive System

Year: 1993

Pituitary-Testicular Function in Nephropathic Cystinosis

By Constance L. Chik, Aaron Friedman, George R. Merriam, William A. Gahl

Download PDF

Cystinosis Overview

Year:

Cystinosis Parent Handbook

By Cystinosis Research Network

Download PDF

Nervous System

Year:

Classroom Accommodations for the Child with Learning Differences

By Doris Trauner

Download PDF

Psychosocial

Year:

Erikson’s Psychosocial Development Theory

By

Download PDF

Cystinosis Overview

Year:

Transition Guide for Teens and Young Adults with Cystinosis and Their Families

By Cystinosis Research Network

Download PDF

Cystinosis Overview

Year:

The History of Cystinosis Lessons for Clinical Management

By Paul Goodyer

Download PDF