COMPOSITIONS AND METHODS FOR THE DIAGNOSIS AND TREATMENT OF DOLICHOL DEFICIENCY RELATED DISORDERS

摘要

The present disclosure provides methods of treating, ameliorating and/or preventing diseases characterized by dolichol deficiency in humans by administering a therapeutically effective amount of a squalene synthase inhibitor. The present disclosure further provides biomarkers, for identifying those individuals at risk for, or suffering from, a disease characterized by a dolichol deficiency.