Publication Name	World Journal of Nephrology
Manuscript ID	3020
Country

Received	2013-04-03 08:35
Peer-Review Started	2013-04-04 17:24
To Make the First Decision	2013-04-25 17:36
Return for Revision	2013-04-26 20:46
Revised
Second Decision	2013-10-17 13:19
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief	2013-10-18 07:02
Articles in Press
Publication Fee Transferred
Edit the Manuscript by Language Editor	2013-10-23 19:39
Typeset the Manuscript	2013-11-01 15:59
Publish the Manuscript Online	2013-11-04 12:41

ISSN	2220-6124 (online)
Open Access
Copyright
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Publisher	Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website	http://www.wjgnet.com

Category	Urology & Nephrology
Manuscript Type	Editorial
Article Title	Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations
Manuscript Source
All Author List	Mohammad Al-Haggar
Funding Agency and Grant Number
Corresponding Author	Mohammad Al-Haggar, MD, Professor, Pediatrics Department, Genetics Unit, Mansoura University Children’s Hospital (MUCH), 60 El Gomhoureya St., 35516 Mansoura, Egypt. m.alhaggar@yahoo.co.uk
Key Words	Cystinosis; CTNS gene; Phenotypic-genotypic correlation
Core Tip	Cystinosis is an autosomal recessive lysosomal storage disease of cystine manifested primarily in the eye and kidneys; corneal cystine deposition detected by slit lamp and a proximal renal tubular defect (Fanconi-like) are the main clinical features. Its responsible gene, called CTNS, encodes the lysosomal cystine carrier protein (cystinosin) and has been mapped on the short arm of chromosome 17. Clinical forms of cystinosis depend upon age of onset of main symptoms. Besides cystine chelation, treatment includes eye protection from sun exposure and renal support up to transplantation. Carrier detection among parents and prenatal genetic diagnosis is the mainstay of prevention.
Publish Date	2013-11-04 12:41
Citation	Al-Haggar M. Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations. World J Nephrol 2013; 2(4): 94-102
URL	http://www.wjgnet.com/2220-6124/full/v2/i4/94.htm
DOI	http://dx.doi.org/10.5527/wjn.v2.i4.94

Full Article (PDF)	WJN-2-94.pdf
Manuscript File	3020-Review.doc
Answering Reviewers	3020-Answering reviewers.pdf
Copyright License Agreement	3020-Copyright assignment.doc
Peer-review Report	3020-Peer review(s).pdf
Scientific Editor Work List	3020-Scientific editor work list.doc