cystinosis


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cystinosis

[‚sis·tə′nō·səs]
(medicine)
A congenital metabolic disorder involving sulfur-containing amino acids, usually cystine; characterized by deposits of cystine crystals in the body organs.
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References in periodicals archive ?
Little Cian was two years old when he was diagnosed with cystinosis.
Raptor has developed a novel extended-release formulation of cysteamine (RP103) for use in nephrotic cystinosis, a rare (orphan) genetic disorder.
Cystinosis Research Network was so impressed by the university's ongoing work into improving life-saving drugs used to treat the illness that it wanted to provide additional funding to further enhance the scientists' study in the hope of one day finding a cure.
Cystinosis is a rare autosomal recessive disorder caused by mutations of cystinosis gene (CTNS; chromosome 17p13), which encodes the lysosomal cystine carrier.
Approximately 150 people in the UK have Cystinosis and, thanks to the development of effective treatments, approximately 30 per cent of them are now adults.
Both Stevie,12,and her sonSean, 11, were both diagnosed with a rare, inherited disease called cystinosis, and have needed transplants as a result.
Cystinosis foundation 1212 Broadway, Suite 830 Oakland, CA 94612 (800) 392-8458
The Frightened Rabbit drummer is helping to raise cash for research into rare illness cystinosis, which has affected his little niece.
Raptor" or the "Company") (Nasdaq: RPTP), today announced the presentation of cystinosis data at the Annual Lysosomal Disease Network WORLD Symposium 2010, being held February 10-12 in Miami, Florida.
Zowiann has Falconi's cystinosis, a rare genetic condition, which only about 150 people in the UK have been diagnosed with.