cystinosis


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cystinosis

(ˌsɪstəˈnəʊsɪs)
pl n
a disease caused by a build-up of the amino acid cystine in the body
References in periodicals archive ?
PROCYSBI is the first cystine-depleting agent given every 12 hours that is approved in the United States for the treatment of nephropathic cystinosis (NC), a rare metabolic disorder, in adults and children 2 years of age and older.
Mr Prouse donated the PS1,000 he won as part of the award to the fund to help benefit the mayor's charities, the Great North Air Ambulance and the Cystinosis Foundation UK.
The Frightened Rabbit drummer is helping to raise cash for research into rare illness cystinosis, which has affected his little niece.
Zowiann has Falconi's cystinosis, a rare genetic condition, which only about 150 people in the UK have been diagnosed with.
Similarly, to provide optimal growth for patients with cystinosis, treatment should be initiated as early as possible in the disease course (Wuhl et al.
Amy was diagnosed at five with cystinosis, which causes crystals in the body which can damage organs like the kidneys.
Cystinosis is a rare autosomal recessive disorder caused by mutations of cystinosis gene (CTNS; chromosome 17p13), which encodes the lysosomal cystine carrier.
A rare metabolic disorder called cystinosis means her internal organs are being slowly destroyed by amino acids.
Software executive Jason Grier has been elected to the Board of Directors of the Cystinosis Research Foundation of Irvine, Calif.
Proceeds from the event, to be held on Friday, September 11 at Hunley Hotel and Golf Club, Brotton, will be donated to The Great North Air Ambulance and The Cystinosis Foundation UK.
THERE have been many charity gigs atThe Electric Circus in my time, indeed one of my favourite nights was the Jonny B Grey aka Frightened Rabbit gig which raised money for the Cystinosis Foundation in 2011.
Biopharmaceutical company Raptor Pharmaceutical Corp (Nasdaq:RPTP) announced on Thursday the approval by the European Commission (EC) of PROCYSBI gastro-resistant hard capsules of cysteamine (as mercaptamine bitartrate), as an orphan medicinal product for the treatment of proven nephropathic cystinosis for marketing in the European Union (EU).