Niemann-Pick disease type C: An update

  title={Niemann-Pick disease type C: An update},
  author={Marie Th{\'e}r{\`e}se Vanier and Peter G. Pentchev and Claire Rodriguez-Lafrasse and Robert Rousson},
  journal={Journal of Inherited Metabolic Disease},
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 disorder is characterized by unique abnormalities of intracellular translocation of… CONTINUE READING