Niemann-Pick disease type C: an update.

Abstract excerpt

The concept of Niemann-Pick disease type C as a secondary sphingomyelin storage disorder (in contrast to the sphingomyelinase-deficient types A and B) has become more and more prevalent, in view of the complex lipid storage pattern and variable sphingomyelinase activities. Although the primary lesion is still unknown, studies conducted over the past six years have led to a breakthrough by showing that this...

Topics

• Animals
• Cholesterol
• Humans
• Lipid Metabolism
• Niemann-Pick Diseases
• Phenotype
• Sphingomyelin Phosphodiesterase