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Review
. 2015 Jan-Feb;73(1):93-106.
doi: 10.1684/abc.2014.1022.

[Mass spectrometry and inherited metabolic diseases diagnosis]

[Article in French]
Gilbert Briand  1 , Stéphanie Lemaire-Ewing  2 , Fabienne Parente  3 , Roselyne Garnotel  4
Affiliations
Free article
Review

[Mass spectrometry and inherited metabolic diseases diagnosis]

[Article in French]
Gilbert Briand et al. Ann Biol Clin (Paris). 2015 Jan-Feb.
Free article

Abstract

Tandem mass spectrometry is used for the diagnosis and following of metabolic disorders for acylcarnitine profiling and with liquide chromatography to explore creatin metabolism and amino and bile acids disorders. The analysis of organic acids by GC-MS is still the reference method for the diagnosis of inherited disorders of organiques acides and sterols. These techniques are also used to perform "in vitro" functional tests.

Keywords: gas chromatography-mass spectrometry; inherited metabolic diseases; tandem mass spectrometry.

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