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01-04-2005 | Consensus Statement

First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future

Authors: Robert Kleta, Frederick Kaskel, Ranjan Dohil, Paul Goodyer, Lisa M. Guay-Woodford, 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

Published in: Pediatric Nephrology | Issue 4/2005

Excerpt

Researchers and clinicians with expertise in cystinosis and related fields met on 12–13 May 2004 on the NIH campus for a 1.5-day symposium sponsored by the NIH Office of Rare Diseases, the NHGRI, and NIDDK, and supported in part by the Cystinosis Foundation and the Cystinosis Research Network. The meeting addressed the past, present, and future of nephropathic cystinosis research. …

Gahl WA, Thoene J, Schneider JA (2001) Cystinosis: a disorder of lysosomal membrane transport. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Vogelstein B (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 5085–5108

Gahl WA, Thoene JG, Schneider JA (2002) Cystinosis. N Engl J Med 347:111–121CrossRefPubMed

Title: First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future
Authors: Robert Kleta
Frederick Kaskel
Ranjan Dohil
Paul Goodyer
Lisa M. Guay-Woodford
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
Publication date: 01-04-2005
Publisher: Springer-Verlag
Published in: Pediatric Nephrology / Issue 4/2005
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-004-1777-5

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First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future

Excerpt

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