scholarly journals Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype

2015 ◽  
pp. 17-26 ◽  
Author(s):  
J. Reunert ◽  
A. S. Lotz-Havla ◽  
G. Polo ◽  
F. Kannenberg ◽  
M. Fobker ◽  
...  
Keyword(s):  
Clinical Phenotype ◽  
Disease Identification ◽  
Type C ◽  
Niemann Pick ◽  
Insight Into

P05.5 Clinical phenotype and mutation analysis of Russian patients with Niemann-Pick type C disease

2011 ◽  
Vol 15 ◽  
pp. S50
Author(s):  
S. Mikhaylova ◽  
E. Zakharova ◽  
G. Rudenskay ◽  
E. Ilina ◽  
T. Boukina ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Clinical Phenotype ◽  
Type C ◽  
Niemann Pick

scholarly journals Structural Insight into Eukaryotic Sterol Transport through Niemann-Pick Type C Proteins

Cell ◽  
2019 ◽  
Vol 179 (2) ◽  
pp. 485-497.e18 ◽  
Author(s):  
Mikael B.L. Winkler ◽  
Rune T. Kidmose ◽  
Maria Szomek ◽  
Katja Thaysen ◽  
Shaun Rawson ◽  
...  
Keyword(s):  
Sterol Transport ◽  
Type C ◽  
Structural Insight ◽  
C Proteins ◽  
Niemann Pick ◽  
Insight Into

ANALYSIS OF CHOLESTEROL AND OXYSTEROL LEVELS IN NIEMANN PICK DISEASE TYPE C MICE AND PATIENTS

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
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