Publications by authors named "Walquiria Domingues de Mello"
J Inherit Metab Dis
July 2022
Article Synopsis
- - Congenital disorders of glycosylation type 1 (CDG-I) are genetic conditions involving 27 defects that mostly result in vague neurological issues, with a key biochemical sign being the lack of complete N-glycans found on transferrin.
- - Researchers used high-resolution mass spectrometry to analyze plasma N-glycans in 111 CDG-I patients and identified specific glycan markers for certain types of CDG, including a novel N-tetrasaccharide for ALG1-CDG.
- - Combining glycomics profiling with sequencing of candidate genes using single-molecule molecular inversion probes (smMIPs) successfully solved 78% of previously unsolved cases, showcasing an effective method for identifying
