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Latest Inborn errors of metabolism Stories

2012-06-05 23:03:15

Revolutionary dietary supplement from Neogenis® Labs supported struggling teen´s circulation and helped his body normalize blood pressure. Austin, TX (PRWEB) June 05, 2012 In the spring of 2010, Baylor College of Medicine's (BCM) Dr. Brendan Lee received a desperate email from the mother of one of his patients. The teen — who had been Lee's patient for most of his life — was in hypertensive crisis and none of the usual treatments could bring his blood pressure down to...

2012-05-09 19:39:51

The deletion of part of a gene that plays a role in the synthesis of carnitine — an amino acid derivative that helps the body use fat for energy — may play a role in milder forms of autism, said a group of researchers led by those at Baylor College of Medicine and Texas Children's Hospital. "This is a novel inborn error of metabolism," said Dr. Arthur Beaudet, chair of molecular and human genetics at BCM and a physician at Texas Children's Hospital, and the senior author of the...

2012-05-07 20:22:05

The deletion of part of a gene that plays a role in the synthesis of carnitine — an amino acid derivative that helps the body use fat for energy — may play a role in milder forms of autism, said a group of researchers led by those at Baylor College of Medicine (http://www.bcm.edu) and Texas Children's Hospital (http://www.texaschildrens.org). "This is a novel inborn error of metabolism," said Dr. Arthur Beaudet (http://www.bcm.edu/genetics/index.cfm?pmid=10579), chair of...

2012-04-26 22:29:05

A team of researchers has discovered a treatment for a common metabolic disorder. The study, published by Cell Press on April 26th in the American Journal of Human Genetics, the official journal of the American Society of Human Genetics, reports that supplementation of nitric oxide (NO) in mice and man afflicted with argininosuccinic aciduria (ASA), a urea cycle disorder (UCD), results in long-term heart and neuropsychological improvements. UCDs are genetic metabolic conditions resulting...

2012-04-26 22:26:38

In the spring of 2010, Baylor College of Medicine's Dr. Brendan Lee received a desperate email from the mother of one of his patients. The teen — who had been Lee's patient for most of his life — was in hypertensive crisis and none of the usual treatments could bring his blood pressure down to normal. His heart was enlarged and not pumping well — a problem called cardiomyopathy that was the result of more than a decade of difficult-to-control high blood pressure....


Word of the Day
monteith
  • A large punch-bowl of the eighteenth century, usually of silver and with a movable rim, and decorated with flutings and a scalloped edge. It was also used for cooling and carrying wine-glasses.
  • A kind of cotton handkerchief having white spots on a colored ground, the spots being produced by a chemical which discharges the color.
This word is possibly named after Monteith (Monteigh), 'an eccentric 17th-century Scotsman who wore a cloak scalloped at the hem.'
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