Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review
Open Access
- 1 August 2016
- journal article
- review article
- Published by Elsevier BV in Molecular Genetics and Metabolism
- Vol. 118 (4), 244-254
- https://doi.org/10.1016/j.ymgme.2016.06.004
Abstract
No abstract availableKeywords
Funding Information
- Actelion Pharmaceuticals Ltd.
This publication has 112 references indexed in Scilit:
- Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM studyHuman Molecular Genetics, 2013
- Analysis of Cholesterol Trafficking with Fluorescent ProbesMethods in Cell Biology, 2012
- Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic responseBlood, 2011
- Endosomal/Lysosomal Processing of Gangliosides Affects Neuronal Cholesterol Sequestration in Niemann-Pick Disease Type CThe American Journal of Pathology, 2011
- Cholesterol Oxidation Products Are Sensitive and Specific Blood-Based Biomarkers for Niemann-Pick C1 DiseaseScience Translational Medicine, 2010
- Nogo-B Receptor Stabilizes Niemann-Pick Type C2 Protein and Regulates Intracellular Cholesterol TraffickingCell Metabolism, 2009
- Oxidative stress in NPC1 deficient cells: protective effect of allopregnanoloneJournal of Cellular and Molecular Medicine, 2009
- Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test resultsHuman Mutation, 2008
- NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomesProceedings of the National Academy of Sciences of the United States of America, 2008
- Elevated globotriaosylsphingosine is a hallmark of Fabry diseaseProceedings of the National Academy of Sciences of the United States of America, 2008