Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening

Niemann Pick type C (NP-C) is a rare neurodegenerative disorder caused by an impairment of intracellular lipid transport. Due to the heterogeneous clinical phenotype and the lack of a reliable blood test, diagnosis and therapy are often delayed for years. In the cell, accumulating cholesterol leads...

Full description

Bibliographic Details
Main Authors: Janine Reunert, Manfred Fobker, Frank Kannenberg, Ingrid Du Chesne, Maria Plate, Judith Wellhausen, Stephan Rust, Thorsten Marquardt
Format: Article
Language:English
Published: Elsevier 2016-02-01
Series:EBioMedicine
Subjects:
Niemann Pick type C
Oxysterols
Cholestantriol
Diagnostic test
Online Access:http://www.sciencedirect.com/science/article/pii/S2352396415302462

Similar Items

Similar Items