Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: A collaborative study on 70 patients

2008 ◽  
Vol 33 (5) ◽  
pp. 331-348 ◽  
Author(s):  
Marie T. Vanier ◽  
David A. Wenger ◽  
Marcella E. Comly ◽  
Robert Rousson ◽  
Roscoe O. Brady ◽  
...  
Keyword(s):  
Collaborative Study ◽  
Cholesterol Esterification ◽  
Disease Group ◽  
Clinical Variability ◽  
Niemann Pick Disease ◽  
Niemann Pick ◽  
Pick Disease

scholarly journals A defect in cholesterol esterification in Niemann-Pick disease (type C) patients.

1985 ◽  
Vol 82 (23) ◽  
pp. 8247-8251 ◽  
Author(s):  
P. G. Pentchev ◽  
M. E. Comly ◽  
H. S. Kruth ◽  
M. T. Vanier ◽  
D. A. Wenger ◽  
...  
Keyword(s):  
Disease Type ◽  
Cholesterol Esterification ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

Cultured fibroblasts from patients with Niemann-Pick disease type C and type D exhibit distinct defects in cholesterol esterification

1992 ◽  
Vol 1124 (1) ◽  
pp. 29-35 ◽  
Author(s):  
Harkirat S. Sidhu ◽  
Stella A.R. Rastogi ◽  
David M. Byers ◽  
Harold W. Cook ◽  
Frederick B.St.C. Palmer ◽  
...  
Keyword(s):  
Disease Type ◽  
Cholesterol Esterification ◽  
Cultured Fibroblasts ◽  
Type D ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease
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