Latest Glycogen storage disease type II Stories

2014-07-07 16:24:11

NEW YORK, July 7, 2014 /PRNewswire/ -- Lysosomal storage disorders are a group of approximately 50 rare inherited metabolic disorders resulting from defects in lysosomal function. These severe, chronic genetic diseases have unmet medical needs, and include Fabry disease, Gaucher disease, Parkinson's disease, Pompe disease, and Tay-Sachs disease. The market for current drug therapies to address these disorders is estimated to exceed $3 billion. Amicus Therapeutics, Inc. (NASDAQ:...

2013-09-27 23:02:00

Three neuromuscular diseases are being considered for inclusion in nationwide screening. Tucson, AZ (PRWEB) September 27, 2013 Pediatrician and medical geneticist R. Rodney Howell, who chairs MDA's Board of Directors, testified Thursday before the Subcommittee on Children and Families of the U.S. Senate Committee on Health, Education, Labor & Pensions to advocate for passage of the Newborn Screening Saves Lives Reauthorization Act of 2013 (S. 1417). Howell emphasized that:...

2012-01-06 10:31:44

Kids with Pompe disease fail because of a missing enzyme, GAA, that leads to dangerous sugar build-up, which affects muscles and movement. An enzyme replacement treatment pioneered at Duke University has saved many lives, but some children with Pompe disease produce an immune reaction that blocks the benefits of the life-saving enzyme treatment. To date there has been no success in eliminating or suppressing this immune response. Now research led by Duke University Medical Center, with...

2011-09-27 05:43:03

(Ivanhoe Newswire) -- Researchers set their eyes on a new treatment! Patients that have been affected by melanoma of the eye, ocular or uveal melanoma, die within an average of two to four months once the disease has spread to the liver due to ineffective treatment.  Only about one in ten patients live for a year.  A recent study has found that with a new treatment patients may be able to reduce the growth of the disease. James Pingpank, associate professor of surgery at the...

2011-07-28 15:05:00

NOVATO, Calif., July 28, 2011 /PRNewswire/ -- BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) today announced an update on the GALNS Phase 1/2 extension study (MOR-100) in which patients have continued treatment on an ongoing basis. Patients originally enrolled in the initial Phase 1/2 study of GALNS (MOR-002) were continued on therapy in a new extension study (MOR-100). In the MOR-100 study, patients were treated at a 2.0 mg/kg/week dose and have been followed for an additional 24 weeks....

2011-05-04 15:01:00

CRANBURY, N.J., May 4, 2011 /PRNewswire/ -- Amicus Therapeutics (Nasdaq: FOLD), a biopharmaceutical company at the forefront of developing therapies for rare diseases, today announced financial results for the first quarter ended March 31, 2011. The Company also highlighted recent and upcoming milestones, including an update on patient enrollment in the ongoing Phase 3 study of its lead program Amigal(TM) (migalastat HCl) for Fabry disease. Development Pipeline Highlights...

Word of the Day
  • Good cheer; viands.
  • To revel; to feast.
The word 'bellycheer' may come from 'belle cheer', "good cheer".