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Cystinosis

Cystinosis is an autosomal recessive genetic disorder of the renal tubules, characterized by the presence of carbohydrates and amino acids in the urine, excessive urination, and low blood levels of potassium and phosphates. (From the Wikpedia article Cystinosis.)

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Recent Publications on Cystinosis:

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Gastric Acid hypersecretory States: recent insights and advances.
Gastric acid hypersecretory states are characterized by basal...
12th November, 2009
Digestive Diseases Branch, National Institutes of Diabetes and Digestive Curr Gastroenterol Rep. 2009 Dec;11(6):433-41.
Analysis of the CTNS gene in 32 cystinosis patients from Spain.
Gastric acid hypersecretory states are characterized by basal...
30th October, 2009
Clin Genet. 2009 Nov;76(5):486-9.
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Evaluation of treatment with cysteamine eyedrops for cystinosis with confocal microscopy.
PURPOSE: The purpose of this study was to evaluate the efficacy of...
30th October, 2009
Ophthalmology Department, Coimbra University Hospital, Coimbra, Portugal. Cornea. 2009 Sep;28(8):938-40.
DOI Direct Link
Characterization of CTNS mutations in Arab patients with cystinosis.
BACKGROUND: Cystinosis is an autosomal recessive disease characterized by...
27th October, 2009
Department of Genetics, King Faisal Specialist Hospital and Research Ophthalmic Genet. 2009 Dec;30(4):185-9.
An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation.
Cystinosis is a rare autosomal recessive lysosomal storage disorder...
27th October, 2009
Genet Test Mol Biomarkers. 2009 Aug;13(4):435-8.
DOI Direct Link

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Press Releases About Cystinosis:

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Raptor Pharmaceutical Completes DR Cysteamine Phase 2b Clinical Trial in Cystinosis 23rd November, 2009
NOVATO, California, November 23 /PRNewswire/ -- Raptor Pharmaceutical Corp. ("Raptor" or the "Company") (Nasdaq: RPTP), today announced results from a Phase 2b clinical trial of
Raptor Pharmaceuticals Enters Collaboration Agreement with UC San Diego in Liver Disease 16th July, 2008
NOVATO, California, July 16 /PRNewswire/ -- Raptor Pharmaceuticals Corp. ("Raptor" or the "Company") (OTC Bulletin Board: RPTP), today announced the execution of a collaboration

BioNews Results for Cystinosis:

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Third Annual 'Fore a Cure' Golf Tournament Raises $165,000 to Fund Cystinosis Research
RBC Dain Rauscher:  Oct 22 2009 6:46AM Matching: cystinosis
Third Annual 'Fore a Cure' Golf Tournament Raises $165,000 to Fund Cystinosis Research
Genetic Engineering News:  Oct 22 2009 12:18AM Matching: cystinosis

Cystinosis Patents:

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US Patent No.Title
6096536 In vitro cell culture in media containing beta-alanyl-taurine or carbobenzoxy beta-alanyl-taurine
6787321 Mammalian two-hybrid system for screening for modulators of the accumulation of metabolic products
6797265 Deleted adenovirus vectors and methods of making and administering the same
6946126 Replicating adenovirus vectors
6977162 Rapid analysis of variations in a genome

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Companies working in the area of Cystinosis from Bioportfolio's Biocorporate database :

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Company Name

Sigma-Tau Pharmaceuticals, Inc.

Two words to encapsulate the core principles of an entire company. Sigma-Tau Pharmaceuticals, Inc. is a rare corporation dedicated to creating novel therapies for the unmet needs of patients with...
www.sigmatau.com        View full profile
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BioPortfolio Ltd. offers e-mail and postal lists for Cystinosis scientists - we have details of around 102 individuals working on Cystinosis .


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Wikipedia excerpt, where present, licenced under the GNU Free Documentation License. Resources from the NCBI applied. Selected MeSH subject headings created and maintained by the US NLM are used in conjunction with additional keywords. 2006-2008 MeSH. Thumbshots from Thumbshots.org

 

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