Sialic acids are one of the most important molecules of life, since they occupy the terminal
position on macromolecules and cell membranes and are involved in many biological and …

The spectrum of all glycan structures—the glycome—is immense. In humans, its size is
orders of magnitude greater than the number of proteins that are encoded by the genome …

Congenital disorders of glycosylation (CDG) are a complex and heterogeneous family of
rare metabolic diseases. With a clinical history that dates back over 40 years, it was the …

Nearly 70 inherited human glycosylation disorders span a breathtaking clinical spectrum,
impacting nearly every organ system and launching a family-driven diagnostic odyssey …

Congenital disorders of glycosylation (CDG, formerly named carbohydrate-deficient
glycoprotein syndromes) are a rapidly growing family of inherited disorders affecting the …

Glycosylation is a ubiquitous modification of lipids and proteins. Despite the essential
contribution of glycoconjugates to the viability of all living organisms, diseases of …

In a field where even experts may find that years have elapsed since they last encountered a
child with a given disorder, it is essential for the clinician to have a comprehensive source of …

Defects in the biosynthesis of the oligosaccharide precursor for N‐glycosylation lead to
decreased occupancy of glycosylation sites and thereby to diseases known as congenital …

The conserved oligomeric Golgi (COG) complex is a heterooctameric complex that regulates
intraGolgi trafficking and the integrity of the Golgi compartment in eukaryotic cells. Here, we …

Deficiencies in the pathway of N-glycan biosynthesis lead to severe multisystem diseases,
known as congenital disorders of glycosylation (CDG). The clinical appearance of CDG is …