Mass spectrometry and inherited metabolic diseases diagnosis
| Affiliation auteurs | Affiliation ok |
| Titre | Mass spectrometry and inherited metabolic diseases diagnosis |
| Type de publication | Journal Article |
| Year of Publication | 2015 |
| Auteurs | Briand G, Lemaire-Ewing S, Parente F, Garnotel R |
| Journal | ANNALES DE BIOLOGIE CLINIQUE |
| Volume | 73 |
| Pagination | 93-106 |
| Date Published | JAN-FEB |
| Type of Article | Article |
| ISSN | 0003-3898 |
| Mots-clés | gas chromatography-mass spectrometry, inherited metabolic diseases, tandem mass spectrometry |
| Résumé | 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. |
| DOI | 10.1684/abc.2014.1022 |