Berkeley -- As the cost of sequencing a single human genome drops rapidly, with one company predicting a price of $100 per person in five years, soon the only reason not to look at your "personal ...
A rare genetic defect that affects the so-called ALG2 gene can cause serious metabolic diseases in humans. Until now, its rareness and complexity made it difficult to study this congenital ...
In one type of a rare, inherited genetic disorder that affects control of body movement, scientists have found a mutation in an enzyme that impairs communication between neurons and what should be the ...
Sucrase-isomaltase (SI) is an intestinal enzyme critical for the digestion of dietary carbohydrates, particularly sucrose and starch. Previous studies from the Gastrointestinal Genetics team at CIC ...
Although gout is no longer caricatured as a comical disease caused by high living and swilling port wine, it is still regarded as an affliction almost exclusively of adult men, many of whom like to ...
Muscular dystrophy is a group of genetic diseases characterized by progressive muscle degeneration. Working with mice with a type of the disease, researchers have found that by expressing an enzyme ...
A vanishingly rare genetic glitch in a single enzyme can erase a newborn’s brain cells in a matter of weeks, leaving doctors with almost no way to intervene. Researchers have now traced that ...
Sucrase-isomaltase (SI) is an intestinal enzyme critical for the digestion of dietary carbohydrates, particularly sucrose and starch. Previous studies from the Gastrointestinal Genetics team at CIC ...
Sandra A. Banta-Wright, MN, RNC, NNP; Robert D. Steiner, MD Neonates with profound and prolonged hyperammonemia with coma due to urea cycle defect will have had a neurological insult to the brain that ...
Some results have been hidden because they may be inaccessible to you
Show inaccessible results