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Hyperkinetic movement disorders: Expanding the phenotype of congenital disorders of glycosylation.

08:00 EDT 17th June 2019 | BioPortfolio

Summary of "Hyperkinetic movement disorders: Expanding the phenotype of congenital disorders of glycosylation."

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.

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This article was published in the following journal.

Name: European journal of neurology
ISSN: 1468-1331
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Medical and Biotech [MESH] Definitions

A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.

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