Congenital disorders of glycosylation (CDG): state of the art in 2022

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...

Source: Orphanet Journal of Rare Diseases - October 19, 2023 Category: Internal Medicine Authors: Rita Francisco, Sandra Brasil, Joana Poejo, Jaak Jaeken, Carlota Pascoal, Paula A. Videira and Vanessa dos Reis Ferreira Tags: Review Source Type: research