Cystinosis Overview

Cystinosis Parent Handbook Final


Cystinosis: the evolution of a treatable disease

Galina Nesterova, and William A. Gahl

2002 New England Journal of Medicine: Cystinosis

Dr. William Gahl, Dr. Jess Thoene, and Dr. Jerry Schneider

The history of cystinosis lessons for clinical management

Dr. Paul Goodyer, Department of Pediatrics, McGill University

Consensus Statement

NIH/Office of Rare Diseases Conference on Cystinosis (Jan2005); Kleta, Kaskel, Dohil, Goodyer, Guay-Woodford, Harms, Ingelfinger, Koch, Langman, Leonard, Mannon, Sarwol, Schneider, Skovby, Sonies, Thoene, Trauner, Gahl

Infantile Nephropathic Cystinosis - Standards of Care

NIH/Office of Rare Diseases Conference on Cystinosis (Jun2012); Nesterova, Gahl

CRN Transitioning Guide

CRN Adult Care Excellence Initiative (Jul 2011); Nesterova, Gahl, Doyle, Friend, Greeley, C Hammond, S Hammond, Jondle, Krummnacker, P Woodward, T Woodward

Cystinosis research network - a patient advocacy group

Expert Opinion on Orphan Drugs (2013) J Morales

Nephropathic cystinosis: an international consensus document

Francesco Emma , Galina Nesterova , Craig Langman , Antoine Labbé, Stephanie Cherqui , Paul Goodyer , Mirian C. Janssen , Marcella Greco , Rezan Topaloglu , Ewa Elenberg, Ranjan Dohil, Doris Trauner, Corinne Antignac, Pierre Cochat, Frederick Kaskel, Aude Servais, Elke Wühl, Patrick Niaudet, William Van’t Hoff, William Gahl and Elena Levtchenko