Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients

BACKGROUND: 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 def...

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Detalles Bibliográficos
Autores principales: Zhang, Huiwen, Wang, Yu, Lin, Na, Yang, Rui, Qiu, Wenjuan, Han, Lianshu, Ye, Jun, Gu, Xuefan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4059728/
https://www.ncbi.nlm.nih.gov/pubmed/24915861
http://dx.doi.org/10.1186/1750-1172-9-82

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