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

Journal of Clinical Lipidology

Volumn 6, Issue 1, 2012, Pages 74-80

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

^a HIROSAKI UNIVERSITY   (Japan)

Author keywords

Acid sphingomyelinase; Cholesterol efflux; High density lipoprotein cholesterol; Sphingomyelin; Type B Niemann Pick disease

Indexed keywords

APOLIPOPROTEIN A1; HIGH DENSITY LIPOPROTEIN; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; PHOSPHATIDYLCHOLINE; SPHINGOMYELIN; SPHINGOMYELIN PHOSPHODIESTERASE 1 PROTEIN; UNCLASSIFIED DRUG;

ABNORMAL RESPIRATORY SOUND; ADULT; ARTICLE; CANCER DIAGNOSIS; CANCER SURGERY; CASE REPORT; CELL CULTURE; CELL TRANSPORT; CHOLECYSTECTOMY; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL TRANSPORT; CODON; COLON ADENOCARCINOMA; COLON POLYP; CONTROLLED STUDY; CUSHING SYNDROME; DESCENDING COLON; GALLSTONE; GENETIC ASSOCIATION; HEMICOLECTOMY; HEPATOSPLENOMEGALY; HUMAN; HUMAN CELL; LIPID STORAGE; LIPOPROTEIN BLOOD LEVEL; LIVER BIOPSY; LUNG LAVAGE; MALE; NIEMANN PICK DISEASE; POINT MUTATION; PRIORITY JOURNAL; SKIN FIBROBLAST;

ADENOCARCINOMA; CELLS, CULTURED; CHOLESTEROL; CHOLESTEROL, HDL; COLONIC NEOPLASMS; CUSHING SYNDROME; FIBROBLASTS; GENETIC ASSOCIATION STUDIES; HUMANS; LIVER; MALE; MIDDLE AGED; NIEMANN-PICK DISEASE, TYPE B; POINT MUTATION; SPHINGOMYELIN PHOSPHODIESTERASE;

EID: 84856222546     PISSN: 19332874     EISSN: 18764789     Source Type: Journal    
DOI: 10.1016/j.jacl.2011.08.009     Document Type: Article

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