Novel biomarkers for inborn errors of metabolism in the metabolomics era
IR@NISCAIR: CSIR-NISCAIR, New Delhi - ONLINE PERIODICALS REPOSITORY (NOPR)
View Archive Info| Field | Value | |
| Title |
Novel biomarkers for inborn errors of metabolism in the metabolomics era
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| Creator |
Vaidyanathan, Kannan
Gopalakrishnan, Sandhya |
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| Subject |
Acylcarnitine
Allo-isoleucine Citrulline Mass spectrometry Magnetic resonance spectroscopy Orotate Succinylacetone |
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| Description |
314-320
Inborn errors of metabolism arise due to deficiency of enzymes in metabolic pathways. Recent years have seen the onset of novel technologies like proteomics, metabolomics, lipidomics, and urinomics. In the past many novel biomarkers have been developed like succinyl acetone for tyrosinemia, a number of organic acids for organic acidurias, acylcarnitines for the detection of fatty acid oxidation disorders and organic acidurias <em>etc</em>. With the advent of the -omics technologies, the number of novel biomarkers has increased dramatically. The use of techniques like mass spectrometry and NMR spectroscopy has led to a faster diagnosis of inborn errors of metabolism and smaller sample requirement. Hundreds of markers can be detected in a single urine sample, making diagnosis easier. There is an urgent need for implementing such techniques into routine practice in India. |
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| Date |
2018-09-27T07:00:01Z
2018-09-27T07:00:01Z 2018-10 |
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| Type |
Article
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| Identifier |
0975-0959 (Online); 0301-1208 (Print)
http://nopr.niscair.res.in/handle/123456789/45081 |
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| Language |
en_US
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| Rights |
<img src='http://nopr.niscair.res.in/image/cc-license-sml.png'> <a href='http://creativecommons.org/licenses/by-nc-nd/2.5/in' target='_blank'>CC Attribution-Noncommercial-No Derivative Works 2.5 India</a>
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| Publisher |
NISCAIR-CSIR, India
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| Source |
IJBB Vol.55(5) [October 2018]
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