Identification of Two Sulfated Cholesterol Metabolites Found in the Urine of a Patient with Niemann–Pick Disease Type C as Novel Candidate Diagnostic Markers
Author:
Affiliation:
1. Department of Pharmaceutical Sciences, Tohoku University Hospital
2. College of Humanities and Sciences, Nihon University
3. Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University
Publisher
The Mass Spectrometry Society of Japan
Subject
Spectroscopy,Instrumentation,Atomic and Molecular Physics, and Optics
Link
https://www.jstage.jst.go.jp/article/massspectrometry/5/2/5_S0053/_pdf
Reference21 articles.
1. 1) M. T. Vanier. Niemann–Pick disease type C. Orphanet J. Rare Dis. 5: 16–33, 2010.
2. 2) M. C. Patterson, C. J. Hendriksz, M. Walterfang, F. Sedel, M. T. Vanier, F. Wijburg, NP-C Guidelines Working Group. Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update. Mol. Genet. Metab. 106: 330–344, 2012.
3. 3) M. Maekawa, M. Shimada, K. Ohno, M. Togawa, H. Nittono, T. Iida, A. F. Hofmann, J. Goto, H. Yamaguchi, N. Mano. Focused metabolomics using liquid chromatography/electrospray ionization tandem mass spectrometry for analysis of urinary conjugated cholesterol metabolites from patients with Niemann–Pick disease type C and 3β-hydroxysteroid dehydrogenase deficiency. Ann. Clin. Biochem. 52: 576–587, 2015.
4. 4) G. Alvelius, O. Hjalmarson, W. J. Griffiths, I. Björkhem, J. Sjövall. Identification of unusual 7-oxygenated bile acid sulfates in a patient with Niemann–Pick disease, type C. J. Lipid Res. 42: 1571–1577, 2001.
5. 5) T. Iida, G. Kakiyama, Y. Hibiya, S. Miyata, T. Inoue, K. Ohno, T. Goto, N. Mano, J. Goto, T. Nambara, A. F. Hofmann. Chemical synthesis of the 3-sulfooxy-7-N-acetylglucosaminyl-24-amidated conjugates of 3β,7β-dihydroxy-5-cholen-24-oic acid, and related compounds: Unusual, major metabolites of bile acid in a patient with Niemann–Pick disease type C1. Steroids 71: 18–29, 2006.
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