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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Main Authors: Anna V. Degtyareva (Author), Tatiana Y. Proshlyakova (Author), Marina S. Gautier (Author), Dmitry N. Degtyarev (Author), Elena A. Kamenets (Author), Galina V. Baydakova (Author), Denis V. Rebrikov (Author), Ekaterina Y. Zakharova (Author)
Format: Book
Published: BMC, 2019-07-01T00:00:00Z.
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3rd Floor Main Library

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