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Congenital disorders of glycosylation (CDG) constitutes a rare group of inborn error of metabolism with myriad clinical presentation due to multisystem involvement. They are caused by mutations in the genes… Click to show full abstract
Congenital disorders of glycosylation (CDG) constitutes a rare group of inborn error of metabolism with myriad clinical presentation due to multisystem involvement. They are caused by mutations in the genes encoding for enzymes involved in the biosynthesis or remodelling of the oligosaccharide moieties of glycoprotein and glycolipid glycans. This article is protected by copyright. All rights reserved.
Keywords:
hyperkinetic movement;
congenital disorders;
disorders glycosylation;
expanding phenotype;
disorders expanding;
movement disorders
Journal Title: European Journal of Neurology
Year Published: 2019
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Journal Title: European Journal of Neurology
Year Published: 2019
Link to full text (if available)
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recommendations!