scholarly journals Niemann-Pick Disease Type C: New Aspects in a Long Published Family – Partial Manifestations in Heterozygotes

2013 ◽  
pp. 25-29 ◽  
Author(s):  
Klaus Harzer ◽  
Stefanie Beck-Wödl ◽  
Peter Bauer
Keyword(s):  
Disease Type ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

Niemann-Pick Disease Type C Quality-of-Life Scale for Adults

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

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

scholarly journals Tonic prime-boost of STING signalling mediates Niemann–Pick disease type C

Nature ◽  
2021 ◽  
Author(s):  
Ting-Ting Chu ◽  
Xintao Tu ◽  
Kun Yang ◽  
Jianjun Wu ◽  
Joyce J. Repa ◽  
...  
Keyword(s):  
Disease Type ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

scholarly journals Abnormal LAMP1 glycosylation may play a role in Niemann-Pick disease, type C pathology

PLoS ONE ◽  
2020 ◽  
Vol 15 (1) ◽  
pp. e0227829
Author(s):  
Niamh X. Cawley ◽  
Caitlin Sojka ◽  
Antony Cougnoux ◽  
Anna T. Lyons ◽  
Elena‐Raluca Nicoli ◽  
...  
Keyword(s):  
Disease Type ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease
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