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Alterations in cholesterol metabolism in cultured fibroblasts from patients with Niemann-Pick disease type C
Journal of Inherited Metabolic Disease
◽
10.1007/bf01799976
◽
1987
◽
Vol 10
(4)
◽
pp. 339-346
◽
Cited By ~ 15
Author(s):
C. Mazière
◽
J. C. Mazière
◽
L. Mora
◽
A. Lageron
◽
C. Polonovski
◽
...
Keyword(s):
Cholesterol Metabolism
◽
Disease Type
◽
Cultured Fibroblasts
◽
Niemann Pick Disease
◽
Type C
◽
Niemann Pick
◽
Pick Disease
Download Full-text
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References
Role of ACAT1-positive late endosomes in macrophages: Cholesterol metabolism and therapeutic applications for Niemann-Pick disease type C
The Journal of Medical Investigation
◽
10.2152/jmi.61.270
◽
2014
◽
Vol 61
(3.4)
◽
pp. 270-277
◽
Cited By ~ 4
Author(s):
Naomi Sakashita
◽
XiaoFeng Lei
◽
Masashi Kamikawa
◽
Kazuchika Nishitsuji
Keyword(s):
Cholesterol Metabolism
◽
Disease Type
◽
Therapeutic Applications
◽
Niemann Pick Disease
◽
Late Endosomes
◽
Type C
◽
Niemann Pick
◽
Pick Disease
Download Full-text
Cultured fibroblasts from patients with Niemann-Pick disease type C and type D exhibit distinct defects in cholesterol esterification
Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism
◽
10.1016/0005-2760(92)90122-c
◽
1992
◽
Vol 1124
(1)
◽
pp. 29-35
◽
Cited By ~ 4
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
Download Full-text
Pathological cholesterol metabolism fails to modify electrophysiological properties of afflicted neurones in Niemann-Pick disease type C
Neuroscience
◽
10.1016/j.neuroscience.2004.09.065
◽
2005
◽
Vol 130
(4)
◽
pp. 867-873
◽
Cited By ~ 14
Author(s):
R.A. Deisz
◽
V. Meske
◽
S. Treiber-Held
◽
F. Albert
◽
T.G. Ohm
Keyword(s):
Cholesterol Metabolism
◽
Disease Type
◽
Electrophysiological Properties
◽
Niemann Pick Disease
◽
Type C
◽
Niemann Pick
◽
Pick Disease
Download Full-text
Niemann-Pick Disease Type C Quality-of-Life Scale for Adults
PsycTESTS Dataset
◽
10.1037/t75153-000
◽
2019
◽
Author(s):
Lydia Aston
◽
Rachel Shaw
◽
Rebecca Knibb
Keyword(s):
Quality Of Life
◽
Disease Type
◽
Niemann Pick Disease
◽
Quality Of Life Scale
◽
Life Scale
◽
Type C
◽
Niemann Pick
◽
Pick Disease
Download Full-text
ANALYSIS OF CHOLESTEROL AND OXYSTEROL LEVELS IN NIEMANN PICK DISEASE TYPE C MICE AND PATIENTS
Neuropediatrics
◽
10.1055/s-2006-945720
◽
2006
◽
Vol 37
(S 1)
◽
Author(s):
S Tay
◽
X He
◽
AM Jenner
◽
BS Wong
◽
WY Ong
Keyword(s):
Disease Type
◽
Niemann Pick Disease
◽
Type C
◽
Niemann Pick
◽
Pick Disease
Download Full-text
Orphan designation: Hydroxy-propyl-beta-cyclodextrin, Treatment of Niemann-Pick disease, type C
Case Medical Research
◽
10.31525/cmr-399673
◽
2019
◽
Author(s):
Keyword(s):
Disease Type
◽
Orphan Designation
◽
Beta Cyclodextrin
◽
Niemann Pick Disease
◽
Type C
◽
Niemann Pick
◽
Pick Disease
Download Full-text
Orphan designation: miglustat, Treatment of Niemann-Pick disease, type C
Case Medical Research
◽
10.31525/cmr-bc1108
◽
2019
◽
Author(s):
Keyword(s):
Disease Type
◽
Orphan Designation
◽
Niemann Pick Disease
◽
Type C
◽
Niemann Pick
◽
Pick Disease
Download Full-text
Faculty Opinions recommendation of The adult form of Niemann-Pick disease type C.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.1085930.538703
◽
2007
◽
Author(s):
Peter Brown
Keyword(s):
Disease Type
◽
Adult Form
◽
Niemann Pick Disease
◽
Type C
◽
Niemann Pick
◽
Pick Disease
Download Full-text
Faculty Opinions recommendation of Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.725350592.793542531
◽
2018
◽
Author(s):
Barbara Borroni
Keyword(s):
Laboratory Diagnosis
◽
Disease Type
◽
Niemann Pick Disease
◽
Type C
◽
Niemann Pick
◽
Pick Disease
Download Full-text
Faculty Opinions recommendation of Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.726446034.793542532
◽
2018
◽
Author(s):
Barbara Borroni
Keyword(s):
Critical Review
◽
Diagnostic Tests
◽
Disease Type
◽
Niemann Pick Disease
◽
Type C
◽
Niemann Pick
◽
Pick Disease
Download Full-text
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