Abstract
During the last years there have been significant advances in the methods available for the detection and investigation of individuals with inherited metabolic disorders. The burgeoning of molecular biology and the discovery of new classes of inherited metabolic disorders are well know. What is perhaps less well recognised, is that there have been comparable advances in analysis and laboratory automation. We report the main aspects of tandem mass spectrometry, high performance liquid chromatography with electrochemical detection and magnetic resonance spectroscopy.
| Translated title of the contribution | New strategies in the diagnostic study of inborn errors of metabolism |
|---|---|
| Original language | Italian |
| Pages (from-to) | 84-89 |
| Number of pages | 6 |
| Journal | Gaslini |
| Volume | 33 |
| Issue number | 1 |
| Publication status | Published - 2001 |
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health