FIGURE 45.1.. Glycosylation-related disorders.

FIGURE 45.1.

Glycosylation-related disorders. The graph shows the cumulative number of human glycosylation disorders in various biosynthetic pathways and the year of their identification. In most cases, the year indicates the definitive proof of gene and specific mutations. In early years, discovery was based on compelling biochemical evidence. Now, discovery is often based on genomic DNA sequencing. In 2013 alone, a new genetically proven glycosylation disorder was reported, on average, every 2 weeks.

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From: Chapter 45, Genetic Disorders of Glycosylation

Cover of Essentials of Glycobiology
Essentials of Glycobiology [Internet]. 3rd edition.
Varki A, Cummings RD, Esko JD, et al., editors.
Cold Spring Harbor (NY): Cold Spring Harbor Laboratory Press; 2015-2017.
Copyright 2015-2017 by The Consortium of Glycobiology Editors, La Jolla, California. All rights reserved.

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