Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation

Conclusion
The clinical phenotype of MOGS-CDG includes multisystemic involvement with variable severity. Molecular analysis, combined with biochemical testing, is important for diagnosis. In MOGS-CDG, urine oligosaccharide analysis via matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry can be used as a reliable biochemical test for screening and confirmation of disease.

Source: Journal of Medical Genetics - October 21, 2022 Category: Genetics & Stem Cells Authors: Shimada, S., Ng, B. G., White, A. L., Nickander, K. K., Turgeon, C., Liedtke, K. L., Lam, C. T., Font-Montgomery, E., Lourenco, C. M., He, M., Peck, D. S., Umana, L. A., Uhles, C. L., Haynes, D., Wheeler, P. G., Bamshad, M. J., Nickerson, D. A., Cushing, Tags: Phenotypes Source Type: research