Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses

Rationale The first step in the diagnosis of oligosaccharidoses is to evidence abnormal oligosaccharides excreted in urine, usually performed by the poorly sensitive but efficient thin layer chromatography (TLC) method. Developing a tandem mass spectrometry (MS/MS) technique could be of great interest to replace TLC. Methods Abnormal underivatized oligosaccharides have been recently studied using matrix‐assisted laser desorption/ionization...