Participating in the EFLMLabX Exchange Programme gave me the opportunity to spend two months, from January to February 2026, at the Laboratory of Inherited Metabolic Diseases of Ospedale Pediatrico Bambino Gesù in Rome. The main objective of my stay was to expand my knowledge of peroxisomal disorders, an area of inherited metabolic diseases in which I was particularly interested in gaining practical experience.
The exchange provided an excellent opportunity to deepen my knowledge of mass spectrometry applied to the diagnosis of inherited metabolic diseases. During my stay, I gained experience with both liquid chromatography–tandem mass spectrometry (LC-MS/MS) and gas chromatography–mass spectrometry (GC-MS), becoming familiar not only with the analytical techniques themselves but also with the principles behind method development, optimisation, validation and interpretation of biochemical results.
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