Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients
Open Access
- 1 January 2014
- journal article
- research article
- Published by Springer Nature in Orphanet Journal of Rare Diseases
- Vol. 9 (1) , 82
Abstract
It has been reported that oxidation product of cholesterol, 7-ketocholesterol, increases in plasma of patients with NP-C. Previously, we established a rapid test to determine the plasma 7-ketocholesterol level and found it elevated significantly in patients with acid sphingomyelinase deficient NPD and NP-C disease.Keywords
This publication has 36 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
- Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick diseaseOrphanet Journal of Rare Diseases, 2013
- Disease and patient characteristics in NP-C patients: findings from an international disease registryOrphanet Journal of Rare Diseases, 2013
- A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasmaJournal of Lipid Research, 2011
- Cholesterol Oxidation Products Are Sensitive and Specific Blood-Based Biomarkers for Niemann-Pick C1 DiseaseScience Translational Medicine, 2010
- Misdiagnosis of Niemann‐Pick disease type C as Gaucher diseaseJournal of Inherited Metabolic Disease, 2010
- Niemann-Pick disease type COrphanet Journal of Rare Diseases, 2010
- Oxidative stress in NPC1 deficient cells: protective effect of allopregnanoloneJournal of Cellular and Molecular Medicine, 2009
- Clinical, Electrophysiological, and Serum Biochemical Measures of Progressive Neurological and Hepatic Dysfunction in Feline Niemann-Pick Type C DiseasePediatric Research, 2008
- Niemann-Pick C1 protects against atherosclerosis in mice via regulation of macrophage intracellular cholesterol traffickingJournal of Clinical Investigation, 2008