When the amount of cholesterol in the blood is too high, hypercholesterolemia can develop, causing serious damage to the ...

The FDA denied a lifesaving drug for Barth syndrome. Now, one Colorado family fears their baby’s only treatment could be pulled.

The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and ...