Congenital disorder of glycosylation (CDG) is an inherited metabolic disease characterized by defects in the synthesis of glycan groups of glycoproteins and glycolipids. In this study, we present the clinical, pathological and physical evaluation of a 10-year-old female patient who is still alive and has been diagnosed with CDG type 2, accompanied by musculoskeletal, heart, liver, lung involvement, vision and…
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