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 …

Hereditary galactosemia is an inborn error of carbohydrate metabolism. Galactose is
metabolized by Leloir pathway enzymes; galactokinase (GALK), galactose-1-phosphate …

Inflammatory diseases are accompanied by numerous changes at the site of inflammation
as well as many systemic physiological and biochemical changes. In the past two decades …

Classic galactosemia is a rare inherited disorder of galactose metabolism caused by
deficient activity of galactose-1-phosphate uridylyltransferase (GALT), the second enzyme of …

Congenital disorders of glycosylation (CDG) are a group of diseases that affect glycoprotein
biogenesis. Eighteen different types of CDG have been defined genetically. They result from …

Congenital disorders of glycosylation type I (CDG-I) form a growing group of recessive
neurometabolic diseases. Identification of disease genes is compromised by the enormous …

Of all protein PTMs, glycosylation is by far the most common, and is a target for proteomic
research. Glycosylation plays key roles in controlling various cellular processes and the …

Protein post-translational modifications (PTMs), such as glycosylation and phosphorylation,
are crucial for various signaling and regulatory events, and are therefore an important …

Primary or premature ovarian insufficiency (POI) is the most common long-term complication
experienced by girls and women with classic galactosemia; more than 80% and perhaps …

Galactosemia, an inborn error of galactose metabolism, was first described in the 1900s by
von Ruess. The subsequent 100 years has seen considerable progress in understanding …