Congenital disorders of glycosylation
January 4, 2021
In this month’s “Hot Topic,” Gessi Pino, a genetic counselor in the Biochemical Genetics Lab at Mayo Clinic, and Kimiyo Raymond, M.D., a clinical consultant in the laboratory and an expert in Congenital Disorders of Glycosylation (CDG), discuss glycosylation and its importance in human biology, highlight laboratory testing, and offer strategies to screen and diagnose CDGs.