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Updated: Apr 18, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 25, 2010
[Mass spectrometry and inherited metabolic diseases diagnosis]
Gilbert Briand1, Stéphanie Lemaire-Ewing2, Fabienne Parente3
1UF métabolisme général, hormonal et maladies rares, Laboratoire de biochimie et biologie moléculaire, Centre de biologie pathologie, CHRU de Lille, Lille, France.
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.
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