Article
Congenital disorders of glycosylation (CDG): state of the art in 2022.
Orphanet journal of rare diseases - 19 Oct 2023
Francisco Rita, Brasil Sandra, Poejo Joana, Jaeken Jaak, Pascoal Carlota, Videira Paula A, Dos Reis Ferreira Vanessa
Abstract excerpt
Congenital disorders of glycosylation (CDG) are a complex and heterogeneous family of rare metabolic diseases. With a clinical history that dates back over 40 years, it was the recent multi-omics advances that mainly contributed to the fast-paced and encouraging developments in the field. However, much remains to be understood, with targeted therapies' discovery and approval being the most urgent unmet need. In...
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