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.
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Witters P., Tahata S., Barone R., Õunap K., Salvarinova R., Grønborg S., Hoganson G., Scaglia F., Lewis A.M., Mori M., Sykut-Cegielska J., Edmondson A., He M, & Morava E. (2020). Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG. Genetics in medicine : official journal of the American College of Medical Genetics, 22(6), 1102-1107.
Other organizations :
University of Catania, Tartu University Hospital, University of Tartu, Children's & Women's Health Centre of British Columbia, Copenhagen University Hospital, Rigshospitalet, University of Illinois Chicago, Texas Children's Hospital, Prince of Wales Hospital, University of Hong Kong, Baylor College of Medicine, Nationwide Children's Hospital, Children's Hospital of Philadelphia
Semi-quantitative N-glycan mass spectrometry analysis (ESI-QTOF)
control variables
Heparinized plasma
Internal control (sialylglycopeptide)
RapiGest SF solution
PNGase F
RapiFluor-MS
HILIC column
Waters' Synapt G2 Si QTOF mass spectrometer
Cohort of 31 healthy controls
positive controls
Internal control (sialylglycopeptide)
negative controls
Cohort of 31 healthy controls
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