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Latest Lysosomal storage diseases Stories

2011-01-24 08:00:00

NOVATO, Calif., Jan. 24, 2011 /PRNewswire/ -- BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) today announced that Jean-Jacques Bienaime, Chief Executive Officer of BioMarin, will host a conference call and webcast on Thursday, February 17, at 5:00 p.m. ET to discuss fourth quarter and full year 2010 financial results. U.S. / Canada Dial-in Number: 866.203.3206 International Dial-in Number: 617.213.8848 Participant Code: 90635895 Replay Dial-in Number: 888.286.8010...

2011-01-19 08:00:00

NOVATO, Calif., Jan. 19, 2011 /PRNewswire/ -- BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) announced today that it has initiated a Phase 1/2 trial for BMN 701, a novel fusion protein of insulin-like growth factor 2 and acid alpha glucosidase (IGF2-GAA) in development for the treatment of Pompe disease. "We have a strong track record of quickly developing enzyme replacement therapies for unmet medical needs and expect to leverage our clinical and regulatory experience and manufacturing...

2011-01-12 13:01:00

SANTA FE, N.M. and AUSTIN, Texas, Jan. 12, 2011 /PRNewswire/ -- A new universal carrier-screening test shows promise for accurately identifying a couple's risk of conceiving a child with any one of 448 devastating and fatal childhood genetic diseases, as described in a peer-reviewed paper published today in the journal, Science Translational Medicine. Developed by the National Center for Genome Resources (NCGR) with funding provided by The Beyond Batten Disease Foundation (BBDF), the...

2011-01-11 10:44:00

NOVATO, Calif., Jan. 11, 2011 /PRNewswire/ -- BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) today announced the initiation of a Phase 1/2 trial for BMN 673, a poly ADP-ribose polymerase (PARP) inhibitor in development for the treatment of genetically-defined cancers. "PARP inihibtors have been validated to show survival benefits in cancer patients with tumors that have defects in DNA repair or in combination with DNA damaging agents, and BMN 673 appears to have superior potency,...

2011-01-11 07:00:00

CRANBURY, N.J., Jan. 11, 2011 /PRNewswire/ -- Amicus Therapeutics (Nasdaq: FOLD) today will provide the Company's business outlook and expected key milestones for 2011 at the 29th Annual J.P. Morgan Healthcare Conference. At the conference, Amicus is providing an update on its three key areas of focus: Amigal (migalastat hydrochloride) for the treatment of Fabry Disease, the evaluation of pharmacological chaperones co-administered with ERT, and the investigation of pharmacological...

2011-01-05 08:00:00

NOVATO, Calif., Jan. 5, 2011 /PRNewswire/ -- BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) today announced that Jean-Jacques Bienaime, Chief Executive Officer of BioMarin, will present a company update at the J.P. Morgan 29th Annual Healthcare Conference in San Francisco on Monday, January 10, 2011 at 2:30 p.m. PT. Interested parties may access a live audio webcast of the conference call via the investor section of the BioMarin website, www.BMRN.com. A replay of the call will be archived...

2010-12-29 07:46:00

(Ivanhoe Newswire) "“ Researchers believe that newborn screening and early treatment for a rare genetic disorder, mucopolysaccharidosis type I (MPS I), is needed so that enzyme replacement therapy can begin at birth and eliminate all the symptoms associated with MPS I. MPS I is an inherited genetic disorder that affects many body systems. It is caused by a defect in the gene that makes an enzyme called alpha-L-iduronidase. Because of this defect, cells either produce the enzyme in low...

2010-12-14 08:00:00

NOVATO, Calif., Dec. 14, 2010 /PRNewswire-FirstCall/ -- BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) today announced that the Medicines and Healthcare Products Regulatory Agency (MHRA) in the UK has completed review of the Clinical Trial Application (CTA) and issued a notice of acceptance for the Phase 3 trial of N-acetylgalactosamine 6-sulfatase (GALNS) for the treatment of Mucopolysaccharidosis IVA (MPS IVA). The company expects to initiate the Phase 3 pivotal trial early in the first...

2010-12-07 08:00:00

NOVATO, Calif., Dec. 7, 2010 /PRNewswire/ -- BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) today announced that Joshua Grass, Vice President of Corporate and Business Development of BioMarin, will present a company update at the Deutsche Bank 2010 BioFEST Conference in Boston on Tuesday, December 14, 2010 at 9:00 a.m. ET. Interested parties may access a live audio webcast of the conference call via the investor section of the BioMarin website, www.BMRN.com. A replay of the call will be...

2010-12-02 23:38:38

A new study offers hope for children born with a rare genetic disease, according to a paper published by the American Association for the Advancement of Science. The research was led by Dr. Matthew Ellinwood, a veterinarian and animal science professor at Iowa State University, in collaboration with Dr. Patricia Dickson at the Harbor-UCLA Medical Center, with colleagues at the Iowa State College of Veterinary Medicine, the University of Tennessee, St. Louis University and the University of...


Word of the Day
toccata
  • In music, a work for a keyboard-instrument, like the pianoforte or organ, originally intended to utilize and display varieties of touch: but the term has been extended so as to include many irregular works, similar to the prelude, the fantasia, and the improvisation.
This word is Italian in origin, coming from the feminine past participle of 'toccare,' to touch.
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