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Latest Inborn errors of metabolism Stories

2008-08-04 09:01:05

CRANBURY, N.J., Aug. 4 /PRNewswire-FirstCall/ -- Amicus Therapeutics , a biopharmaceutical company developing small molecule, orally-administered pharmacological chaperones for the treatment of human genetic diseases, announced today that it has successfully completed an End of Phase 2 meeting for Amigal(TM) with the U.S. Food and Drug Administration (FDA). The FDA indicated that the data from the completed Phase 2 clinical studies of Amigal support the start of Phase 3 development and...

2008-07-23 09:01:21

Hyperion Therapeutics has completed patient enrollment in its Phase I/II clinical trial to evaluate the safety, tolerability and ammonia scavenging effects of HPN-100 versus Buphenyl in patients with urea cycle disorders. The company plans to announce top-line results in the fourth quarter of 2008. HPN-100 is a pro-drug of phenylbutryrate and a pre-pro-drug of phenylacetic acid, the active moiety of Buphenyl, the only therapy currently FDA-approved as adjunctive therapy for the chronic...

2008-07-17 12:00:21

Asubio Pharma, one of the group companies of Daiichi Sankyo, has announced an additional indication for the inherited metabolic disease agent Biopten for the treatment of tetrahydrobiopterin responsive hyperphenylalaninemia. Asubio's Biopten is said to be a highly pure chemically synthesized form of the tetrahydrobiopterin (BH4) that occurs naturally in the human body. It treats hyperphenylalaninemia (HPA) patients by ameliorating the serum phenylalanine level. Maruho marketed Biopten...

2008-07-16 18:00:12

NOVATO, Calif., July 16 /PRNewswire-FirstCall/ -- BioMarin Pharmaceutical Inc. (Nasdaq and SWX: BMRN) announced today that Asubio Pharma Co., Ltd. (a subsidiary of Daiichi Sankyo), has received marketing approval from the Japanese Ministry of Health, Labour and Welfare (MHLW) for a label extension of Biopten(R) (sapropterin dihydrochloride), which contains the same active ingredient as Kuvan(R) in the U.S., for the treatment of patients with phenylketonuria (PKU). BioMarin will receive a...

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2008-03-12 14:25:00

A gene therapy treatment that restores a missing liver enzyme in test animals could provide a cure for a rare metabolic disorder in humans, according to Duke University Medical Center researchers. People born with the disorder, called glycogen storage disease type Ia (GSD-Ia), can't make an enzyme that helps the liver store and release glucose, the sugar that all cells use for energy. Without treatment, their blood sugar levels drop dangerously low, causing seizures and organ damage. Eating...

2007-10-25 12:00:22

Given that BioMarin Pharmaceuticals's Kuvan is potentially the only treatment for the rare genetic metabolic disorder phenylketonuria, Datamonitor believes that Wall Street may be underestimating Kuvan's market potential. Taking into account the high levels of unmet need in this disease, combined with promising late-stage data, Datamonitor predicts US sales of $403 million in 2011 for Kuvan. Phenylketonuria (PKU) is a rare genetic metabolic disorder that affects approximately one in 15,000...

2007-07-25 06:15:00

Many parents have visited the NetWellness Web site with questions about their child's body odor. Luckily, body odor in itself usually does not signify a problem. As children mature, it is not uncommon to begin to have issues with body odor. Body odor is typically caused by bacteria that live on the skin and break down skin oils which produce the smell. Some rarer causes of unusual body odor in young children are premature adrenarche (early onset of puberty) and a variety of rare metabolic...


Word of the Day
sough
  • A murmuring sound; a rushing or whistling sound, like that of the wind; a deep sigh.
  • A gentle breeze; a waft; a breath.
  • Any rumor that engages general attention.
  • A cant or whining mode of speaking, especially in preaching or praying; the chant or recitative characteristic of the old Presbyterians in Scotland.
  • To make a rushing, whistling, or sighing sound; emit a hollow murmur; murmur or sigh like the wind.
  • To breathe in or as in sleep.
  • To utter in a whining or monotonous tone.
According to the OED, from the 16th century, this word is 'almost exclusively Scots and northern dialect until adopted in general literary use in the 19th.'
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