Congenital Disorders of Glycosylation in Portugal – Two Decades of Experience

To describe the clinical, biochemical, and genetic features of both new and previously reported patients with congenital disorders of glycosylation (CDG) diagnosed in Portugal over the last 20 years.

Source: The Journal of Pediatrics - December 16, 2020 Category: Pediatrics Authors: Dulce Quelhas PharmaD, Esmeralda Martins, Lu ísa Azevedo, Anabela Bandeira, Luísa Diogo, Paula Garcia, Sílvia Sequeira, Ana Cristina Ferreira, Elisa Leão Teles, Esmeralda Rodrigues, Ana Maria Fortuna, Carla Mendonça, Helena Cabral Fernandes, Ana Mede Tags: Original Articles Source Type: research