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01/2014
Objective: Niemann Pick disease (NPD) type A (NPA: MIM #257200) is a lipid storage disorder with an autosomal recessive inheritance and occurrs by defect of... 
Acid sphingomyelinase-1 | Niemann Pick disease | Mutation | SMPD1 Gene
Web Resource
Journal of Lipid Research, ISSN 0022-2275, 09/2016, Volume 57, Issue 9, pp. 1644 - 1658
Journal Article
PloS one, ISSN 1932-6203, 2018, Volume 13, Issue 2, pp. e0192424 - e0192424
[This corrects the article DOI: 10.1371/journal.pone.0175478.]. 
Niemann-Pick disease | Cyclodextrin | Cyclodextrins | Medical treatment
Journal Article
Encephale, ISSN 0013-7006, 06/2016, Volume 42, Issue 3, pp. 208 - 213
Introduction. - Niemann-Pick type C disease (NPC) is a rare genetic disease with an extremely heterogeneous clinical presentation. The adult form of this... 
Niemann-Pick disease type C | Psychiatric disorders
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 04/2019, Volume 126, Issue 4, pp. 466 - 469
Niemann-Pick disease, type C (NPC) is a neurodegenerative lysosomal storage disease affecting the visceral organs and the central nervous system. The age of... 
NPC | Niemann-Pick disease, type C | Lysosomal storage disease
Journal Article
JOURNAL OF CELL BIOLOGY, ISSN 0021-9525, 06/2009, Volume 185, Issue 7, pp. 1209 - 1225
Late endosomes (LEs) have characteristic intracellular distributions determined by their interactions with various motor proteins. Motor proteins associated to... 
LIFETIME IMAGING MICROSCOPY | NIEMANN-PICK-DISEASE | KINESIN | INTRACELLULAR-TRANSPORT | MEDIATED ENDOCYTOSIS | LOW-DENSITY LIPOPROTEIN | ENDOPLASMIC-RETICULUM | RAB PROTEINS | MEMBRANE-TRANSPORT | OXYSTEROL-BINDING PROTEIN | CELL BIOLOGY
Journal Article
European Journal of Haematology, ISSN 0902-4441, 11/2018, Volume 101, Issue 5, pp. 707 - 708
Journal Article
National Medical Journal of China, ISSN 0376-2491, 01/2018, Volume 98, Issue 4, pp. 284 - 288
Journal Article
Netherlands Journal of Medicine, ISSN 0300-2977, 2015, Volume 73, Issue 9, pp. 441 - 442
Journal Article
Free radical biology & medicine, ISSN 0891-5849, 04/2019
Cholestane-3β,5α,6β-triol (3β,5α,6β-triol) is formed from cholestan-5,6-epoxide (5,6-EC) in a reaction catalysed by cholesterol epoxide hydrolase, following... 
Journal Article
International Journal of Molecular Sciences, ISSN 1661-6596, 03/2019, Volume 20, Issue 5, p. 1152
Niemann-Pick disease Type C (NPC) is a rare lysosomal storage disease characterized by the dysfunction of intracellular cholesterol trafficking with... 
2-hydroxypropyl-β-cyclodextrin | Cyclodextrin | Niemann-Pick disease type C | 6-O-α-maltosyl-β-cyclodextrin | Index Medicus | cyclodextrin
Journal Article
PLoS ONE, ISSN 1932-6203, 12/2014, Volume 9, Issue 12, p. e116042
Journal Article
EUROPEAN JOURNAL OF PHARMACEUTICAL SCIENCES, ISSN 0928-0987, 02/2019, Volume 128, pp. 202 - 208
A new renaissance started in the research and application of cyclodextrins a few years ago. 2-Hydroxypropyl-beta-cyclodextrin (HPBCD) is used in the... 
Ga-68 | NIEMANN-PICK-DISEASE | Hydroxypropyl-beta-cyclodextrin | PHARMACOLOGY & PHARMACY | 2-HYDROXYPROPYL-BETA-CYCLODEXTRIN | Pharmacokinetics | Positron emission tomography
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 10/2014, Volume 99, Issue 10, p. A366
Journal Article
Journal Article
American Journal of Physiology (Consolidated), ISSN 0002-9513, 08/2017, Volume 313, Issue 2, p. E183
A genome-wide association study (GWAS) reported that common variation in the human Niemann-Pick C1 gene (NPC1) is associated with morbid adult obesity. This... 
Niemann-Pick disease | Physiological aspects | Ketogenic diet
Journal Article
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