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

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 cholester...

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Detalles Bibliográficos
Autores principales:	Degtyareva, Anna V., Proshlyakova, Tatiana Y., Gautier, Marina S., Degtyarev, Dmitry N., Kamenets, Elena A., Baydakova, Galina V., Rebrikov, Denis V., Zakharova, Ekaterina Y.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625024/ https://www.ncbi.nlm.nih.gov/pubmed/31296176 http://dx.doi.org/10.1186/s12881-019-0857-0

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