Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients

Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients

Abstract Background Niemann-Pick disease type C (NP-C) is an inherited neurodegenerative disease (1 per 100 000 newborns) caused by NPC proteins impairment that leads to unesterified cholesterol accumulation in late endosomal/lysosomal compartments. To date the NP-C diagnostics is usually based on c...

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Bibliographic Details
Main Authors: Anna V. Degtyareva, Tatiana Y. Proshlyakova, Marina S. Gautier, Dmitry N. Degtyarev, Elena A. Kamenets, Galina V. Baydakova, Denis V. Rebrikov, Ekaterina Y. Zakharova
Format: Article
Language:English
Published: BMC 2019-07-01
Series:BMC Medical Genetics
Subjects:
Niemann-pick disease type C
Cholestasis
Biomarker
Oxysterol
Chitotriosidase
Screening, NPC1, NPC2, JAG1, ABCB11, LARS
Online Access:http://link.springer.com/article/10.1186/s12881-019-0857-0

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http://link.springer.com/article/10.1186/s12881-019-0857-0

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