Reduced cellular cholesterol efflux and low plasma high-density lipoprotein cholesterol in a patient with type B Niemann-Pick disease because of a novel SMPD-1 mutation

Naoki Tamasawa, Shinobu Takayasu, Hiroshi Murakami, Maki Yamashita, Kota Matsuki, Jutaro Tanabe, Hiroshi Murakami, Jun Matsui, Kei Satoh and Toshihiro Suda

Journal of Clinical Lipidology 6 ( 1 ): 74 - 80 , 2012