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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
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Cited By
References
Co-cultivation of Niemann-Pick disease type C fibroblasts belonging to complementation groupsα andβ stimulates LDL-derived cholesterol esterification
Journal of Inherited Metabolic Disease
◽
10.1007/bf01799171
◽
1996
◽
Vol 19
(6)
◽
pp. 769-774
◽
Cited By ~ 25
Author(s):
S. J. Steinberg
◽
D. Mondal
◽
A. H. Fensom
Keyword(s):
Disease Type
◽
Cholesterol Esterification
◽
Niemann Pick Disease
◽
Type C
◽
Niemann Pick
◽
Pick Disease
Download Full-text
Linkage of Niemann-Pick Disease Type D to the Same Region of Human Chromosome 18 as Niemann-Pick Disease Type C
The American Journal of Human Genetics
◽
10.1086/513899
◽
1997
◽
Vol 61
(1)
◽
pp. 139-142
◽
Cited By ~ 22
Author(s):
W.L. Greer
◽
D.C. Riddell
◽
D.M. Byers
◽
J.P. Welch
◽
G.S. Girouard
◽
...
Keyword(s):
Human Chromosome
◽
Disease Type
◽
Chromosome 18
◽
Type D
◽
Niemann Pick Disease
◽
Type C
◽
Niemann Pick
◽
Pick Disease
Download Full-text
A defect in cholesterol esterification in Niemann-Pick disease (type C) patients.
Proceedings of the National Academy of Sciences
◽
10.1073/pnas.82.23.8247
◽
1985
◽
Vol 82
(23)
◽
pp. 8247-8251
◽
Cited By ~ 273
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
Download Full-text
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
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
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