Latest Inborn errors of metabolism Stories
In medical research, finding a reliable and cost-effective animal model can greatly enhance success in identifying disease mechanisms and genetic pathways, potentially cutting years off drug testing regimes and development of new treatment strategies.
The main symptom of Rotor syndrome is jaundice caused by a buildup of a substance known as conjugated bilirubin.
Researchers at the Swedish medical university Karolinska Institutet have discovered a new inherited disorder that causes severe mental retardation and liver dysfunction.
Researchers from Monell Chemical Senses Center in Philadelphia are reporting that people with unexplained body odor issues may be suffering from a metabolic disorder, trimethylaminuria (TMAU) or “fish-odor syndrome”.
Just as we must take out the trash to keep our homes clean and safe, it is essential that our cells have mechanisms for dealing with wastes and worn-out proteins.
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.
- Sleep; the state or condition of being asleep.
- The state or condition of numbness of a part due to pressure on a nerve: as, the obdormition of a limb.