Investigation of diagnostic performance of five urinary cholesterol metabolites for Niemann-Pick disease type C

Investigation of diagnostic performance of five urinary cholesterol metabolites for Niemann-Pick disease type C

Niemann-Pick disease type C (NPC) is an autosomal recessive disorder characterized by progressive nervous degeneration. Because of the diversity of clinical symptoms and onset age, the diagnosis of this disease is difficult. Therefore, biomarker tests have attracted significant attention for earlier...

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Bibliographic Details
Main Authors: Masamitsu Maekawa, Isamu Jinnoh, Aya Narita, Takashi Iida, Daisuke Saigusa, Anna Iwahori, Hiroshi Nittono, Torayuki Okuyama, Yoshikatsu Eto, Kousaku Ohno, Peter T. Clayton, Hiroaki Yamaguchi, Nariyasu Mano
Format: Article
Language:English
Published: Elsevier 2019-12-01
Series:Journal of Lipid Research
Subjects:
Niemann-Pick disease type C
urinary biomarkers
liquid chromatography/tandem mass spectrometry
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520310452

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http://www.sciencedirect.com/science/article/pii/S0022227520310452

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