Boiciuc, Chiril; Blăniță, Daniela; Huijben, Karin; Lefeber, Dirk; Ușurelu, Natalia
(Instituţia Medico-Sanitară Publică Institutul Mamei și Copilului, 2025)
Introduction: Congenital disorders of glycosylation (CDG) represent a group of genetic diseases affecting the synthesis and assembly of carbohydrate on protein or lipid molecules. First described in 1980 by Prof. J. Jaeken, ...