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COG1-congenital disorders of glycosylation: Milder presentation and review
(Wiley Blackwell Publishing, Inc, 2021-09)
Congenital disorders of glycosylation (CDG) are a heterogeneous group of genetic defects in glycoprotein and glycolipid glycan synthesis and attachment. A CDG subgroup are defects in the conserved oligomeric Golgi complex ...
Ten years of screening for congenital disorders of glycosylation in Argentina: Case studies and pitfalls
(International Pediatric Research Foundation, 2018-12)
Background: Congenital Disorders of Glycosylation (CDG) are genetic diseases caused by hypoglycosylation of glycoproteins and glycolipids. Most CDG are multisystem disorders with mild to severe involvement. Methods: We ...