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Latest Inborn errors of metabolism Stories

2009-01-15 10:03:44

Severe protein restrictions normally the only way to avoid brain damage and retardationImagine being forced to say no to a child crying for more food at supper. Sadly, Margie Fischer doesn't have to imagine it; that was normal life at her family's dinner table for years. Her daughter Maggie, now 20, suffers from phenylketonuria (PKU), a genetic disease that means her body can't tolerate anything more than a low-protein diet.PKU is described by scientists as an autosomal recessive genetic...

2009-01-12 14:00:00

Company Expects to Deliver Multiple Clinical Milestones throughout the Year; Amigal to Initiate Phase 3 Global Development in Second Quarter; Continued Strong Financial Position CRANBURY, N.J., Jan. 12 /PRNewswire-FirstCall/ -- Amicus Therapeutics (Nasdaq: FOLD) today announced positive progress in its three lead clinical programs for lysosomal storage disorders and presented a corporate outlook consisting of multiple clinical milestones and financial guidance for 2009 at the 27th Annual...

2009-01-08 12:15:00

The life of a Minnesota boy suffering with a rare and serious form of the genetic disorder Pompe disease has been extended after treatment with a drug typically used to suppress the immune system of those with cancer and rheumatoid arthritis.Rituxan, or rituximab,  is a monoclonal antibody made by Genentech Inc and Biogen Idec.  It consists of genetically engineered immune system molecules, and is used to treat non-Hodgkin's lymphoma, rheumatoid arthritis and other conditions.Dr....

2009-01-08 07:00:00

CRANBURY, N.J., Jan. 8 /PRNewswire-FirstCall/ -- Amicus Therapeutics (Nasdaq: FOLD) today announced the election of Sol J. Barer, Ph.D., to its Board of Directors. Dr. Barer currently serves as Chairman and Chief Executive Officer of Celgene Corporation. As an industry veteran, Dr. Barer brings over 20 years of management experience and a reputation as a trusted and respected leader who has helped transform Celgene into one of the world's preeminent biopharmaceutical companies. John F....

2008-12-09 08:00:00

NOVATO, Calif., Dec. 9 /PRNewswire-FirstCall/ -- BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) announced today that its partner Merck Serono, a division of Merck KGaA, Darmstadt, Germany, has received marketing approval for Kuvan(R) (sapropterin dihydrochloride) for the treatment of hyperphenylalaninemia (HPA) in phenylketonuria (PKU) or BH4 deficient patients from the European Commission. Merck Serono estimates that there are approximately 35,000 patients diagnosed with...

2008-11-12 09:00:45

SOUTH SAN FRANCISCO, Calif., Nov. 12 /PRNewswire/ -- Hyperion Therapeutics, Inc. today reported completion of data analysis for its Phase 2 clinical trial designed to evaluate the safety, tolerability and ammonia scavenging effects of HPN-100 versus BUPHENYL(R) (sodium phenylbutyrate), the current standard of care in patients with urea cycle disorders. Data from the trial will be presented at an upcoming medical conference. (Logo: http://www.newscom.com/cgi-bin/prnh/20070905/AQW076LOGO)...

2008-11-06 09:00:12

NOVATO, Calif., Nov. 6 /PRNewswire-FirstCall/ -- BioMarin Pharmaceutical Inc. announced today that data from clinical studies of Kuvan(R) (sapropterin dihydrochloride), Naglazyme(R) (galsulfase) and enzyme replacement therapies for MPS IVA (Morquio Syndrome) and Pompe disease will be presented at the 58th Annual Meeting of the American Society of Human Genetics (ASHG) in Philadelphia, Pennsylvania, November 11-15, 2008. "We look forward to a number of poster presentations that will...

2008-11-03 09:00:07

NOVATO, Calif, Nov. 3 /PRNewswire-FirstCall/ -- BioMarin Pharmaceutical Inc. announced today the initiation of the Morquio Clinical Assessment Program (MorCAP) for patients with the lysosomal storage disease Mucopolysaccharidosis Type IVA (MPS IVA), or Morquio A Syndrome. MorCAP is designed to augment available data on the disease by measuring endurance and respiratory function and other parameters in affected patients. BioMarin expects to follow the MorCAP program with a Phase 1b...

2008-10-13 21:00:15

By HARWARD, Esther WHEN TWO of Tauranga mum Jenny Noble's three children were diagnosed with a crippling bone disease, they told her they were in so much pain they wanted to die. No medical remedy they tried worked and doctors told her and her husband Paul that nothing could be done to ease their children's suffering. That wasn't good enough for the former secretary, who, despite having no medical knowledge, spent the next 20 years becoming an expert in the disease, known as ML3...

2008-09-25 17:46:23

NOVATO, Calif., Sept. 25 /PRNewswire-FirstCall/ -- BioMarin Pharmaceutical Inc. announced today that its partner Merck Serono, a division of Merck KGaA, Darmstadt, Germany, has received a positive opinion for Kuvan(R) (sapropterin dihydrochloride) as an oral treatment for hyperphenylalaninemia (HPA) in patients with phenylketonuria (PKU) or tetrahydrobiopterin (BH4) deficiency from the Committee for Medicinal Products for Human Use (CHMP), the scientific committee of the European Medicines...


Word of the Day
omadhaun
  • A fool; a simpleton: a term of abuse common in Ireland and to a less extent in the Gaelic-speaking parts of Scotland.
This word is partly Irish in origin.