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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Detalhes bibliográficos
Publicado no:EBioMedicine
Main Authors: Reunert, Janine, Fobker, Manfred, Kannenberg, Frank, Du Chesne, Ingrid, Plate, Maria, Wellhausen, Judith, Rust, Stephan, Marquardt, Thorsten
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2015
Assuntos:
Research Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4776073/
https://ncbi.nlm.nih.gov/pubmed/26981555
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ebiom.2015.12.018
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