Art

J-GLOBAL ID：202002285195233623   Reference number：20A1673762

Global metabolomics analysis of serum from patients with Niemann-Pick disease type C

Niemann-Pick病C型患者の血清のグローバルメタボロミクス分析

Author (15)： IWAHORI Anna (Tohoku Univ., Miyagi, JPN) ,  MAEKAWA Masamitsu (Tohoku Univ., Miyagi, JPN) ,  MAEKAWA Masamitsu (Tohoku Univ. Hospital, Miyagi, JPN) ,  KANEMITSU Yoshitomi (Tohoku Univ. Hospital, Miyagi, JPN) ,  MATSUMOTO Yotaro (Tohoku Univ., Miyagi, JPN) ,  MATSUMOTO Yotaro (Tohoku Univ. Hospital, Miyagi, JPN) ,  TOMIOKA Yoshihisa (Tohoku Univ., Miyagi, JPN) ,  TOMIOKA Yoshihisa (Tohoku Univ. Hospital, Miyagi, JPN) ,  NARITA Aya (Tottori Univ. Hospital, Tottori, JPN) ,  OKUYAMA Torayuki (National Center for Child Health and Dev., Tokyo, JPN) ,  ETO Yoshikatsu (Inst. for Neurological Disorders, Kanagawa, JPN) ,  SAIGUSA Daisuke (Tohoku Univ. Hospital, Miyagi, JPN) ,  SAIGUSA Daisuke (Tohoku Univ., Miyagi, JPN) ,  MANO Nariyasu (Tohoku Univ., Miyagi, JPN) ,  MANO Nariyasu (Tohoku Univ. Hospital, Miyagi, JPN)
Material： Medical Mass Spectrometry (Web)
Volume： 4  Issue： 1  Page： WEB ONLY  Publication year： 2020 
JST Material Number： U1447A  ISSN： 2432-745X  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： human ,...
Semi thesaurus term： serodiagnosis ,...

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JST classification (2)： Mental disorders  (GR03000A) ,  Congenital diseases,deformities in general.  (GD03010V)

Substance index (2)： Sphingosyl phosphorylcholine ,  N-Palmitoyl-O-phosphocholineserine

Reference (29)：

• Vanier MT: Niemann-Pick disease type C. Orphanet J Rare Dis 5: 16, 2010.
• Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S, et al: Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet J Rare Dis 13: 50, 2018.
• Patterson MC, Hendriksz CJ, Walterfang M, Vanier MT, Wijburg F, et al: Recommendations for the diagnosis and management of Niemann-Pick disease type C: An update. Mol Genet Metab 106: 330-344, 2012.
• Pentchev PG, Boothe AD, Kruth HS, Weintroub H, Stivers J, et al: A genetic storage disorder in BALB/C mice with a metabolic block in esterification of exogenous cholesterol. J Biol Chem 250: 5784-5791, 1984.
• Vanier MT, Latour P: Laboratory diagnosis of Niemann-Pick disease type C: The filipin staining test. Method Cell Biol 126: 357-375, 2015.

Terms in the title (6)： Niemann-Pick病C型 ,  患者 ,  血清 ,  グローバル ,  メタボロミクス ,  分析