News tagged with rare metabolic disorder


British medics let sick baby die after court ruling

Medicine & Health / Other

created Mar 21, 2009 | popularity 4.8 / 5 (5) | comments 2

A seriously ill baby boy in Britain died Saturday, the day after his parents lost a legal battle to force doctors to keep him alive.





Search results for rare metabolic disorder


Discovery of genetic mutation in Leigh syndrome

Medicine & Health / Genetics

created Aug 11, 2009 | popularity not rated yet | comments 0

Researchers at the Montreal Neurological Institute and Hospital (The Neuro), McGill University have discovered a genetic mutation underlying late-onset Leigh syndrome, a rare inherited metabolic disorder characterized by ...


If bipolar disorder is over-diagnosed, what are the actual diagnoses?

Medicine & Health / Psychology & Psychiatry

created Jul 29, 2009 | popularity 4.7 / 5 (3) | comments 1

A year ago, a study by Rhode Island Hospital and Brown University researchers reported that fewer than half the patients previously diagnosed with bipolar disorder received an actual diagnosis of bipolar disorder after using ...


Metabolic syndrome a risk for veterans with PTSD

Medicine & Health / Diseases

created Jan 08, 2009 | popularity not rated yet | comments 0

Veterans with post-traumatic stress disorder (PTSD) are more likely to have metabolic syndrome than veterans without PTSD, according to a study led by Pia Heppner, Ph.D., psychologist with the University of California, San ...


Researchers ID traits of people with rare accelerated aging syndrome

Medicine & Health / Diseases

created Dec 15, 2009 | popularity not rated yet | comments 0

UT Southwestern Medical Center researchers have provided the most extensive account to date of the unique observable characteristics seen in patients with an extremely rare premature aging syndrome.


Adults with genetic disorder PKU need to get back to the clinic

Medicine & Health / Diseases

created Aug 26, 2009 | popularity 5 / 5 (1) | comments 0

Genetic researchers at Children's Memorial Hospital, Chicago, are aggressively identifying adult patients who suffer from the genetic disorder, Phenylketonuria (PKU), and are presenting those findings at the 11th International ...


Scientists identify gene for deadly inherited lung disease

Medicine & Health / Genetics

created Jun 04, 2009 | popularity not rated yet | comments 0

A rare, deadly developmental disorder of the lungs called alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) that usually kills the infants born with it within the first month of life results from ...


Causative gene of a rare disorder discovered by sequencing only protein-coding regions of genome

For the first time, scientists discover causative gene of a rare disorder by exome sequencing

Medicine & Health / Genetics

created Nov 17, 2009 | popularity 5 / 5 (1) | comments 0

(PhysOrg.com) -- UW researchers have successfully used a method called exome sequencing to quickly discover a previously unknown gene responsible for a rare disorder. The finding demonstrates the usefulness ...


Genetic 'bearded lady' syndrome uncovered: study

Medicine & Health / Genetics

created May 21, 2009 | popularity not rated yet | comments 0

New research provides exciting genetic insight into a rare syndrome that first appeared in the medical literature in the mid 1800s with the case of Julia Pastrana, the world's most notorious bearded lady. The study, published ...


Might fish provide Lowe-down on boyhood disease?

Might fish provide Lowe-down on boyhood disease?

Medicine & Health / Research

created Feb 07, 2008 | popularity not rated yet | comments 0

Scientists have been awarded £72,000 to study zebrafish in a bid to understand the causes of an incurable genetic disorder in humans. The University of Manchester team will use the model organism to investigate ...


Researchers Begin to Decipher Metabolism of Sexual Assault Drug

Researchers Begin to Decipher Metabolism of Sexual Assault Drug

Chemistry / Biochemistry

created Nov 19, 2009 | popularity 4 / 5 (1) | comments 0

(PhysOrg.com) -- It’s a naturally occurring brain chemical with an unwieldy name: 4-hydroxybutyrate (4-HB). Taken by mouth, it can be abused or used as a date-rape drug.



List of search results for rare metabolic disorder