Congenital disorders of glycosylation: narration of a story through its patents

Abstract excerpt

Congenital disorders of glycosylation are a group of more than 160 rare genetic defects in protein and lipid glycosylation. Since the first clinical report in 1980 of PMM2-CDG, the most common CDG worldwide, research made great strides, but nearly all of them are still missing a cure. CDG diagnosis has been at a rapid pace since the introduction of whole-exome/whole-genome sequencing as a diagnostic tool. Here,...

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• Carbohydrate Chemistry and Synthesis
• Glycosylation and Glycoproteins Research
• Lysosomal Storage Disorders Research