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...

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Detalles Bibliográficos
Autores principales: Reunert, Janine, Fobker, Manfred, Kannenberg, Frank, Du Chesne, Ingrid, Plate, Maria, Wellhausen, Judith, Rust, Stephan, Marquardt, Thorsten
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4776073/
https://www.ncbi.nlm.nih.gov/pubmed/26981555
http://dx.doi.org/10.1016/j.ebiom.2015.12.018

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