Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann–Pick Disease Type C

Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann–Pick Disease Type C

Niemann−Pick disease type C (NPC) is an autosomal recessive disorder caused by the mutation of cholesterol-transporting proteins. In addition, early treatment is important for good prognosis of this disease because of the progressive neurodegeneration. However, the diagnosis of this diseas...

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Bibliographic Details
Main Authors: Masamitsu Maekawa, Isamu Jinnoh, Yotaro Matsumoto, Aya Narita, Ryuichi Mashima, Hidenori Takahashi, Anna Iwahori, Daisuke Saigusa, Kumiko Fujii, Ai Abe, Katsumi Higaki, Shosei Yamauchi, Yuji Ozeki, Kazutaka Shimoda, Yoshihisa Tomioka, Torayuki Okuyama, Yoshikatsu Eto, Kousaku Ohno, Peter T Clayton, Hiroaki Yamaguchi, Nariyasu Mano
Format: Article
Language:English
Published: MDPI AG 2019-10-01
Series:International Journal of Molecular Sciences
Subjects:
niemann–pick disease type c
biomarkers
chemical diagnosis
lysosphingomyelin-509
<i>n</i>-acyl-phospholipids
lc–ms/ms
had–ms/ms
chemical derivatization
identification
structural determination
Online Access:https://www.mdpi.com/1422-0067/20/20/5018

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https://www.mdpi.com/1422-0067/20/20/5018

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