摘要:
Methods for screening or diagnosing subjects for disorders involving accumulation of one or more oxysterols such as cytotoxic oxysterol accumulation, Niemann-Pick C(NPC) disease, lysosomal storage diseases, cholesterol trafficking diseases, and neurodegenerative diseases. Also provided are methods for methods for screening or diagnosing subjects (including infants and neonatal subjects) for NPC disease, methods for monitoring the progression, remission, and clinical status of NPC disease, and methods for evaluating the efficacy of therapeutic treatment of NPC disease.
摘要:
Methods for screening or diagnosing subjects for disorders involving accumulation of one or more oxysterols such as cytotoxic oxysterol accumulation, Niemann-Pick C(NPC) disease, lysosomal storage diseases, cholesterol trafficking diseases, and neurodegenerative diseases. Also provided are methods for methods for screening or diagnosing subjects (including infants and neonatal subjects) for NPC disease, methods for monitoring the progression, remission, and clinical status of NPC disease, and methods for evaluating the efficacy of therapeutic treatment of NPC disease.
摘要:
In one aspect the present invention provides neuroactive steroids for use in the treatment of nervous system disorders, degenerative brain diseases and congenital storage diseases. In a second aspect the invention provides neuroactive steroids in combination with a Liver X Receptor (LXR) ligand to effect treatment of a nervous system condition.