From 8 patients (patients 1-3, 5-7 and 9-10) samples were collected before and after the galactose trial for semi-quantitative N-glycan mass spectrometry analysis (ESI-QTOF) 12 (link).
Briefly, heparinized plasma was combined with an internal control (sialylglycopeptide) and digested in buffered RapiGest SFTM solution. N-glycans were cleaved with PNGase FTM, reacted with RapiFluor-MS, and isolated on a HILIC column. Mass spectrometric analysis was performed on the Waters’ Synapt G2 Si QTOF as previously described.
Normal values were derived from a previously obtained cohort of 31 healthy controls.
All samples were analyzed at the Children’s Hospital of Philadelphia, Philadelphia, USA.