Congenital Disorders of Glycosylation (CDG): from glycoproteins to patient care
2012
Carbohydrates are at the forefront of Congenital Disorders of Glycosylation (CDG), a rapidly growing family of genetic diseases with more than 50 members identified at the molecular and biochemical level since the first clinical description in 1980. They are due to defects in the synthesis of glycan...
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