Genetic Disorders of Glycosylation

In: Essentials of Glycobiology [Internet]. 3rd edition. Cold Spring Harbor (NY): Cold Spring Harbor Laboratory Press; 2015–2017. Chapter 45.


This chapter discusses inherited human diseases that affect glycan biosynthesis and metabolism. Representative examples of diseases caused by defects in several major glycan families are described. Disorders affecting the degradation of glycans are described in Chapter 44.

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