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NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls.

Abstract:

Niemann-Pick type C1 (NPC1) disease is a rare autosomal recessive, neurodegenerative lysosomal storage disorder, which presents with a range of clinical phenotypes and hence diagnosis remains a challenge. In view of these difficulties, the search for a novel, NPC1-specific biomarker (or set of biomarkers) is a topic of much interest. Here we employed high-resolution 1H nuclear magnetic resonance spectroscopy coupled with advanced multivariate analysis techniques in order to explore and seek d...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1038/s41598-017-06264-2

Authors


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Department:
Oxford, MSD, Pharmacology
Ruiz-Rodado, V More by this author
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Department:
Oxford, MSD, Pharmacology
Nicoli, ER More by this author
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Department:
Oxford, MPLS, Chemistry, Organic Chemistry
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SPARKS Medical Charity for Children’s Health More from this funder
Hope Against Cancer Charity More from this funder
De Montfort University More from this funder
Action Medical research More from this funder
Niemann-Pick Disease Group UK More from this funder
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Publisher:
Nature Publishing Group Publisher's website
Journal:
Scientific Reports Journal website
Volume:
7
Pages:
6320
Publication date:
2017-07-05
Acceptance date:
2017-06-09
DOI:
EISSN:
2045-2322
Pubs id:
pubs:708185
URN:
uri:9eae2b3d-8a59-4f53-932c-6ccee0d517d6
UUID:
uuid:9eae2b3d-8a59-4f53-932c-6ccee0d517d6
Local pid:
pubs:708185

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