Neuroscience

Blood test can detect GLUT1 deficiency syndrome

(HealthDay)—A simple and rapid blood test can detect GLUT1 deficiency syndrome (DS), according to a study published online May 26 in the Annals of Neurology.

Genetics

New diagnostic method identifies genetic diseases

People with genetic diseases often have to embark on an odyssey from one doctor to the next. Fewer than half of all patients who are suspected of having a genetic disease actually receive a satisfactory diagnosis. Scientists ...

Cardiology

Fatal cholesterol disease overlooked and untreated

Hereditary high blood cholesterol leads to premature heart disease. It is overlooked and untreated virtually worldwide—including in Europe. This is a major problem as the disease is dangerous for health. However, this disease ...

Medical research

Study finds novel gene correction model for epidermolysis bullosa

A research team led by pediatric blood and marrow transplantation experts Mark Osborn, Ph.D. and Jakub Tolar, M.D., Ph.D. from the Masonic Cancer Center, University of Minnesota, have discovered a remarkable new way to repair ...

Medical research

Scientists find protein that reins in runaway network

Marked for death with molecular tags that act like a homing signal for a cell's protein-destroying machinery, a pivotal enzyme is rescued by another molecule that sweeps the telltale targets off in the nick of time.

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